nstd45

Organism:
Human
Study Type:
Curated Collection
Submitter:
ClinGen Structural Variation Working Group 
Submitter URL:
http://www.clinicalgenome.org
Description:
Genes/genomic regions with sufficient evidence supporting (pathogenic) or refuting (benign) dosage sensitivity as a mechanism for disease. Evidence is evaluated on a continual basis by the ClinGen Structural Variation Working Group as described in Riggs et al. 2012.
Project:
PRJNA42509
Publication(s):
Riggs et al. 2012

Detailed Information: Download 270 Variant Regions, Download 298 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38 (hg38)
Submitted: GRCh37 (hg19)
Remapped: NCBI36 (hg18)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr179RemappedNC_000001.11
NC_000002.12Chr21617RemappedNC_000002.12
NC_000003.12Chr366RemappedNC_000003.12
NC_000004.12Chr444RemappedNC_000004.12
NC_000005.10Chr51212RemappedNC_000005.10
NC_000006.12Chr678RemappedNC_000006.12
NC_000007.14Chr71011RemappedNC_000007.14
NC_000008.11Chr8910RemappedNC_000008.11
NC_000009.12Chr977RemappedNC_000009.12
NC_000010.11Chr10810RemappedNC_000010.11
NC_000011.10Chr111112RemappedNC_000011.10
NC_000012.12Chr1288RemappedNC_000012.12
NC_000013.11Chr1344RemappedNC_000013.11
NC_000014.9Chr1457RemappedNC_000014.9
NC_000015.10Chr151317RemappedNC_000015.10
NC_000016.10Chr161112RemappedNC_000016.10
NC_000017.11Chr171721RemappedNC_000017.11
NC_000018.10Chr1844RemappedNC_000018.10
NC_000019.10Chr1923RemappedNC_000019.10
NC_000020.11Chr2067RemappedNC_000020.11
NC_000021.9Chr2122RemappedNC_000021.9
NC_000022.11Chr221012RemappedNC_000022.11
NC_000023.11ChrX8993RemappedNC_000023.11
NC_000024.10ChrY22RemappedNC_000024.10
NT_187523.1Chr2|NT_187523.112RemappedNT_187523.1
NT_187647.1Chr2|NT_187647.112RemappedNT_187647.1
NT_187585.1Chr11|NT_187585.111RemappedNT_187585.1
NT_187600.1Chr14|NT_187600.112RemappedNT_187600.1
NT_187660.1Chr15|NT_187660.122RemappedNT_187660.1
NT_187607.1Chr16|NT_187607.111RemappedNT_187607.1
NT_187614.1Chr17|NT_187614.123RemappedNT_187614.1
NT_187663.1Chr17|NT_187663.134RemappedNT_187663.1
NT_187625.1Chr20|NT_187625.111RemappedNT_187625.1
NT_187633.1Chr22|NT_187633.111RemappedNT_187633.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr179SubmittedNC_000001.10
NC_000002.11Chr21617SubmittedNC_000002.11
NC_000003.11Chr366SubmittedNC_000003.11
NC_000004.11Chr444SubmittedNC_000004.11
NC_000005.9Chr51212SubmittedNC_000005.9
NC_000006.11Chr678SubmittedNC_000006.11
NC_000007.13Chr71011SubmittedNC_000007.13
NC_000008.10Chr8910SubmittedNC_000008.10
NC_000009.11Chr977SubmittedNC_000009.11
NC_000010.10Chr10810SubmittedNC_000010.10
NC_000011.9Chr111112SubmittedNC_000011.9
NC_000012.11Chr1288SubmittedNC_000012.11
NC_000013.10Chr1344SubmittedNC_000013.10
NC_000014.8Chr1457SubmittedNC_000014.8
NC_000015.9Chr151317SubmittedNC_000015.9
NC_000016.9Chr161112SubmittedNC_000016.9
NC_000017.10Chr171721SubmittedNC_000017.10
NC_000018.9Chr1844SubmittedNC_000018.9
NC_000019.9Chr1923SubmittedNC_000019.9
NC_000020.10Chr2067SubmittedNC_000020.10
NC_000021.8Chr2122SubmittedNC_000021.8
NC_000022.10Chr221012SubmittedNC_000022.10
NC_000023.10ChrX8993SubmittedNC_000023.10
NC_000024.9ChrY22SubmittedNC_000024.9
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.9Chr179RemappedNC_000001.9
NC_000002.10Chr21617RemappedNC_000002.10
NC_000003.10Chr366RemappedNC_000003.10
NC_000004.10Chr444RemappedNC_000004.10
NC_000005.8Chr51212RemappedNC_000005.8
NC_000006.10Chr678RemappedNC_000006.10
NC_000007.12Chr71011RemappedNC_000007.12
NC_000008.9Chr8910RemappedNC_000008.9
NC_000009.10Chr977RemappedNC_000009.10
NC_000010.9Chr10810RemappedNC_000010.9
NC_000011.8Chr111112RemappedNC_000011.8
NC_000012.10Chr1288RemappedNC_000012.10
NC_000013.9Chr1344RemappedNC_000013.9
NC_000014.7Chr1457RemappedNC_000014.7
NC_000015.8Chr151317RemappedNC_000015.8
NC_000016.8Chr161112RemappedNC_000016.8
NC_000017.9Chr171721RemappedNC_000017.9
NC_000018.8Chr1844RemappedNC_000018.8
NC_000019.8Chr1923RemappedNC_000019.8
NC_000020.9Chr2067RemappedNC_000020.9
NC_000021.7Chr2122RemappedNC_000021.7
NC_000022.9Chr221012RemappedNC_000022.9
NC_000023.9ChrX8993RemappedNC_000023.9
NC_000024.8ChrY22RemappedNC_000024.8

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.10Chr1732200933300
NC_000002.11Chr21614100117141002
NC_000003.11Chr3660000660000
NC_000004.11Chr4431000431000
NC_000005.9Chr51211100012111000
NC_000006.11Chr6770000880000
NC_000007.13Chr710910001192000
NC_000008.10Chr899000010100000
NC_000009.11Chr9761000761000
NC_000010.10Chr108602001060400
NC_000011.9Chr111110000112110001
NC_000012.11Chr12880000880000
NC_000013.10Chr13440000440000
NC_000014.8Chr14531001732002
NC_000015.9Chr151310010217120302
NC_000016.9Chr161110000112110001
NC_000017.10Chr171712000521140007
NC_000018.9Chr18431000431000
NC_000019.9Chr19211000321000
NC_000020.10Chr20641001751001
NC_000021.8Chr21211000211000
NC_000022.10Chr2210531011254201
NC_000023.10ChrX897315100937517100
NC_000024.9ChrY211000211000
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.10Chr1761000981000
NC_000002.11Chr21615100017161000
NC_000003.11Chr3660000660000
NC_000004.11Chr4431000431000
NC_000005.9Chr51212000012120000
NC_000006.11Chr6770000880000
NC_000007.13Chr71010000011110000
NC_000008.10Chr89720001073000
NC_000009.11Chr9770000770000
NC_000010.10Chr108701001080200
NC_000011.9Chr111111000012120000
NC_000012.11Chr12880000880000
NC_000013.10Chr13440000440000
NC_000014.8Chr14550000770000
NC_000015.9Chr151311200017116000
NC_000016.9Chr161111000012120000
NC_000017.10Chr171712500021147000
NC_000018.9Chr18440000440000
NC_000019.9Chr19220000330000
NC_000020.10Chr20660000770000
NC_000021.8Chr21220000220000
NC_000022.10Chr22109100012102000
NC_000023.10ChrX8986210093902100
NC_000024.9ChrY220000220000

Samplesets

Number of Samplesets: 1

Name:
Curated Dosage Sensitive Genes and Genomic Regions
Description:
Annotated pathogenic and benign dosage sensitive genes and genomic regions
Size:
0 (sample data not available)
Organisms:
Homo sapiens
Sampleset Phenotype(s):
See descriptions on individual entries for information on associated phenotype(s).

Experimental Details

Experiment IDTypeMethodAnalysisNumber of Variant Calls
1DiscoveryCuratedCurated298

Validations

No validation data were submitted for this study.