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nsv3922827

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:6,545,882
  • Description:GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 38015 SVs from 133 studies. See in: genome view    
Submitted genomic100,309,382-106,855,263Question Mark
Overlapping variant regions from other studies: 35680 SVs from 133 studies. See in: genome view    
Submitted genomic100,775,719-107,263,478Question Mark
Overlapping variant regions from other studies: 13710 SVs from 37 studies. See in: genome view    
Submitted genomic99,845,472-106,334,523Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3922827Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000014.9Chr14100,309,382106,855,263
nsv3922827Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000014.8Chr14100,775,719107,263,478
nsv3922827Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000014.7Chr1499,845,472106,334,523

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15161267copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000050938.5, VCV000057267.11

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15161267Submitted genomicNC_000014.9:g.(?_1
00309382)_(1068552
63_?)del
GRCh38 (hg38)NC_000014.9Chr14100,309,382106,855,263
nssv15161267Submitted genomicNC_000014.8:g.(?_1
00775719)_(1072634
78_?)del
GRCh37 (hg19)NC_000014.8Chr14100,775,719107,263,478
nssv15161267Submitted genomicNC_000014.7:g.(?_9
9845472)_(10633452
3_?)del
NCBI36 (hg18)NC_000014.7Chr1499,845,472106,334,523

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15161267GRCh37: NC_000014.8:g.(?_100775719)_(107263478_?)del, GRCh38: NC_000014.9:g.(?_100309382)_(106855263_?)del, NCBI36: NC_000014.7:g.(?_99845472)_(106334523_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000050938.5, VCV000057267.11

No genotype data were submitted for this variant

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