nstd45 (ClinGen Curated Dosage Sensitivity Map)

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
Last updated:
2015-11-24

Detailed Information: Download 298 Variant Regions, Download 330 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p2 (hg38)
Submitted: GRCh37 (hg19)
Remapped: NCBI36 (hg18)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr1910RemappedNC_000001.11
NC_000002.12Chr21920RemappedNC_000002.12
NC_000003.12Chr399RemappedNC_000003.12
NC_000004.12Chr444RemappedNC_000004.12
NC_000005.10Chr51213RemappedNC_000005.10
NC_000006.12Chr689RemappedNC_000006.12
NC_000007.14Chr71214RemappedNC_000007.14
NC_000008.11Chr81012RemappedNC_000008.11
NC_000009.12Chr978RemappedNC_000009.12
NC_000010.11Chr101113RemappedNC_000010.11
NC_000011.10Chr111415RemappedNC_000011.10
NC_000012.12Chr121010RemappedNC_000012.12
NC_000013.11Chr1344RemappedNC_000013.11
NC_000014.9Chr1457RemappedNC_000014.9
NC_000015.10Chr151418RemappedNC_000015.10
NC_000016.10Chr161213RemappedNC_000016.10
NC_000017.11Chr171822RemappedNC_000017.11
NC_000018.10Chr1844RemappedNC_000018.10
NC_000019.10Chr1945RemappedNC_000019.10
NC_000020.11Chr2067RemappedNC_000020.11
NC_000021.9Chr2122RemappedNC_000021.9
NC_000022.11Chr221013RemappedNC_000022.11
NC_000023.11ChrX9195RemappedNC_000023.11
NC_000024.10ChrY22RemappedNC_000024.10
NT_187600.1Chr14|NT_187600.112RemappedNT_187600.1
NT_187660.1Chr15|NT_187660.111RemappedNT_187660.1
NT_187614.1Chr17|NT_187614.123RemappedNT_187614.1
NW_011332701.1Chr15|NW_011332701.124RemappedNW_011332701.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr11012SubmittedNC_000001.10
NC_000002.11Chr21920SubmittedNC_000002.11
NC_000003.11Chr399SubmittedNC_000003.11
NC_000004.11Chr444SubmittedNC_000004.11
NC_000005.9Chr51213SubmittedNC_000005.9
NC_000006.11Chr689SubmittedNC_000006.11
NC_000007.13Chr71112SubmittedNC_000007.13
NC_000008.10Chr81012SubmittedNC_000008.10
NC_000009.11Chr978SubmittedNC_000009.11
NC_000010.10Chr101113SubmittedNC_000010.10
NC_000011.9Chr111415SubmittedNC_000011.9
NC_000012.11Chr121010SubmittedNC_000012.11
NC_000013.10Chr1344SubmittedNC_000013.10
NC_000014.8Chr1457SubmittedNC_000014.8
NC_000015.9Chr151418SubmittedNC_000015.9
NC_000016.9Chr161213SubmittedNC_000016.9
NC_000017.10Chr171923SubmittedNC_000017.10
NC_000018.9Chr1844SubmittedNC_000018.9
NC_000019.9Chr1945SubmittedNC_000019.9
NC_000020.10Chr2067SubmittedNC_000020.10
NC_000021.8Chr2122SubmittedNC_000021.8
NC_000022.10Chr221013SubmittedNC_000022.10
NC_000023.10ChrX9195SubmittedNC_000023.10
NC_000024.9ChrY22SubmittedNC_000024.9
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.9Chr11012RemappedNC_000001.9
NC_000002.10Chr21920RemappedNC_000002.10
NC_000003.10Chr399RemappedNC_000003.10
NC_000004.10Chr444RemappedNC_000004.10
NC_000005.8Chr51213RemappedNC_000005.8
NC_000006.10Chr689RemappedNC_000006.10
NC_000007.12Chr71112RemappedNC_000007.12
NC_000008.9Chr81012RemappedNC_000008.9
NC_000009.10Chr978RemappedNC_000009.10
NC_000010.9Chr101113RemappedNC_000010.9
NC_000011.8Chr111415RemappedNC_000011.8
NC_000012.10Chr121010RemappedNC_000012.10
NC_000013.9Chr1344RemappedNC_000013.9
NC_000014.7Chr1457RemappedNC_000014.7
NC_000015.8Chr151418RemappedNC_000015.8
NC_000016.8Chr161213RemappedNC_000016.8
NC_000017.9Chr171923RemappedNC_000017.9
NC_000018.8Chr1844RemappedNC_000018.8
NC_000019.8Chr1945RemappedNC_000019.8
NC_000020.9Chr2067RemappedNC_000020.9
NC_000021.7Chr2122RemappedNC_000021.7
NC_000022.9Chr221013RemappedNC_000022.9
NC_000023.9ChrX9195RemappedNC_000023.9
NC_000024.8ChrY22RemappedNC_000024.8

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.10Chr110622001263300
NC_000002.11Chr21917200020173000
NC_000003.11Chr3990000990000
NC_000004.11Chr4431000431000
NC_000005.9Chr51211100013121000
NC_000006.11Chr6880000990000
NC_000007.13Chr71110100012102000
NC_000008.10Chr81010000012120000
NC_000009.11Chr9770000880000
NC_000010.10Chr1011902001390400
NC_000011.9Chr111414000015150000
NC_000012.11Chr121010000010100000
NC_000013.10Chr13440000440000
NC_000014.8Chr14531001732002
NC_000015.9Chr151411100218131004
NC_000016.9Chr161212000013130000
NC_000017.10Chr171918000123210002
NC_000018.9Chr18431000431000
NC_000019.9Chr19431000541000
NC_000020.10Chr20651000761000
NC_000021.8Chr21211000211000
NC_000022.10Chr2210631001365200
NC_000023.10ChrX917416100957618100
NC_000024.9ChrY211000211000
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.10Chr1109100012111000
NC_000002.11Chr21918100020191000
NC_000003.11Chr3990000990000
NC_000004.11Chr4431000431000
NC_000005.9Chr51212000013130000
NC_000006.11Chr6880000990000
NC_000007.13Chr71111000012120000
NC_000008.10Chr810820001293000
NC_000009.11Chr9770000880000
NC_000010.10Chr101110010013110200
NC_000011.9Chr111414000015150000
NC_000012.11Chr121010000010100000
NC_000013.10Chr13440000440000
NC_000014.8Chr14550000770000
NC_000015.9Chr151412200018126000
NC_000016.9Chr161212000013130000
NC_000017.10Chr171914500023167000
NC_000018.9Chr18440000440000
NC_000019.9Chr19440000550000
NC_000020.10Chr20660000770000
NC_000021.8Chr21220000220000
NC_000022.10Chr22109100013112000
NC_000023.10ChrX9188210095922100
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
1DiscoveryCuratedCurated330

Validations

No validation data were submitted for this study.