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nsv3895257

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:2,592,671
  • Description:GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 7244 SVs from 99 studies. See in: genome view    
Submitted genomic30,766,758-33,359,428Question Mark
Overlapping variant regions from other studies: 7225 SVs from 99 studies. See in: genome view    
Submitted genomic31,239,605-33,825,029Question Mark
Overlapping variant regions from other studies: 1373 SVs from 27 studies. See in: genome view    
Submitted genomic31,012,192-33,597,616Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3895257Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000001.11Chr130,766,75833,359,428
nsv3895257Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr131,239,60533,825,029
nsv3895257Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000001.9Chr131,012,19233,597,616

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147192copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000053802.6, VCV000059931.11

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15147192Submitted genomicNC_000001.11:g.(?_
30766758)_(3335942
8_?)del
GRCh38 (hg38)NC_000001.11Chr130,766,75833,359,428
nssv15147192Submitted genomicNC_000001.10:g.(?_
31239605)_(3382502
9_?)del
GRCh37 (hg19)NC_000001.10Chr131,239,60533,825,029
nssv15147192Submitted genomicNC_000001.9:g.(?_3
1012192)_(33597616
_?)del
NCBI36 (hg18)NC_000001.9Chr131,012,19233,597,616

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147192GRCh37: NC_000001.10:g.(?_31239605)_(33825029_?)del, GRCh38: NC_000001.11:g.(?_30766758)_(33359428_?)del, NCBI36: NC_000001.9:g.(?_31012192)_(33597616_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000053802.6, VCV000059931.11

No genotype data were submitted for this variant

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