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nsv3914059

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:14,073,855
  • Description:GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 34087 SVs from 135 studies. See in: genome view    
Submitted genomic77,765,431-91,839,285Question Mark
Overlapping variant regions from other studies: 34108 SVs from 135 studies. See in: genome view    
Submitted genomic78,677,666-92,851,513Question Mark
Overlapping variant regions from other studies: 8228 SVs from 37 studies. See in: genome view    
Submitted genomic78,840,221-92,920,689Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3914059Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000008.11Chr877,765,43191,839,285
nsv3914059Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr878,677,66692,851,513
nsv3914059Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000008.9Chr878,840,22192,920,689

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147910copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000054261.5, VCV000060379.11

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15147910Submitted genomicNC_000008.11:g.(?_
77765431)_(9183928
5_?)del
GRCh38 (hg38)NC_000008.11Chr877,765,43191,839,285
nssv15147910Submitted genomicNC_000008.10:g.(?_
78677666)_(9285151
3_?)del
GRCh37 (hg19)NC_000008.10Chr878,677,66692,851,513
nssv15147910Submitted genomicNC_000008.9:g.(?_7
8840221)_(92920689
_?)del
NCBI36 (hg18)NC_000008.9Chr878,840,22192,920,689

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147910GRCh37: NC_000008.10:g.(?_78677666)_(92851513_?)del, GRCh38: NC_000008.11:g.(?_77765431)_(91839285_?)del, NCBI36: NC_000008.9:g.(?_78840221)_(92920689_?)delcopy number lossde novoSee casesPathogenicClinVarRCV000054261.5, VCV000060379.11

No genotype data were submitted for this variant

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