nsv995887

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:20,647,311
  • Description:mosaic - FISH studies using a probe within the duplicated interval (RP11-1134I18) confirmed the presence of this duplication in 50.0% of metaphases and 50.0% of interphase nuclei from a PHA-stimulated culture as well as in 49.0% of interphase nuclei from a direct unstimulated sample.
  • Publication(s):Miller et al. 2010

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 21345 SVs from 81 studies. See in: genome view    
Remapped(Score: Perfect):167,717,962-188,365,272Question Mark
Overlapping variant regions from other studies: 21349 SVs from 81 studies. See in: genome view    
Submitted genomic167,435,750-188,083,060Question Mark
Overlapping variant regions from other studies: 13506 SVs from 36 studies. See in: genome view    
Remapped(Score: Perfect):168,918,444-189,565,754Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv995887RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000003.12Chr3167,717,962188,365,272
nsv995887Submitted genomicGRCh37 (hg19)NC_000003.11Chr3167,435,750188,083,060
nsv995887RemappedPerfectNCBI36 (hg18)Primary AssemblyFirst PassNC_000003.10Chr3168,918,444189,565,754

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy number
nssv3395114copy number gainSNP arraySNP genotyping analysisGlobal developmental delayLikely pathogenicSCV000183314classified by single submitter3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv3395114RemappedPerfectNC_000003.12:g.(?_
167717962)_(188365
272_?)dup
GRCh38 (hg38)Primary AssemblyFirst PassNC_000003.12Chr3167,717,962188,365,272
nssv3395114Submitted genomicNC_000003.11:g.(?_
167435750)_(188083
060_?)dup
GRCh37 (hg19)NC_000003.11Chr3167,435,750188,083,060
nssv3395114RemappedPerfectNC_000003.10:g.(?_
168918444)_(189565
754_?)dup
NCBI36 (hg18)Primary AssemblyFirst PassNC_000003.10Chr3168,918,444189,565,754

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv33951142Sample data available in dbGaPFISHManual observationPass
nssv33951143Sample data available in dbGaPKaryotypingManual observationPass

Clinical Assertions

Variant Call IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelCopy number
nssv3395114SCV000183314NC_000003.11:g.(?_167435750)_(188083060_?)dupcopy number gainNot testedGlobal developmental delayLikely pathogenicclassified by single submitter3

No genotype data were submitted for this variant