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nsv3897330

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:519,203
  • Description:GRCh38/hg38 Xp21.1(chrX:31540244-32059446)x0 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 941 SVs from 64 studies. See in: genome view    
Submitted genomic31,540,244-32,059,446Question Mark
Overlapping variant regions from other studies: 941 SVs from 64 studies. See in: genome view    
Submitted genomic31,558,361-32,077,563Question Mark
Overlapping variant regions from other studies: 272 SVs from 14 studies. See in: genome view    
Submitted genomic31,468,282-31,987,484Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3897330Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000023.11ChrX31,540,24432,059,446
nsv3897330Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX31,558,36132,077,563
nsv3897330Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000023.9ChrX31,468,28231,987,484

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15120864copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000134548.3, VCV000145146.10

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15120864Submitted genomicNC_000023.11:g.(?_
31540244)_(3205944
6_?)del
GRCh38 (hg38)NC_000023.11ChrX31,540,24432,059,446
nssv15120864Submitted genomicNC_000023.10:g.(?_
31558361)_(3207756
3_?)del
GRCh37 (hg19)NC_000023.10ChrX31,558,36132,077,563
nssv15120864Submitted genomicNC_000023.9:g.(?_3
1468282)_(31987484
_?)del
NCBI36 (hg18)NC_000023.9ChrX31,468,28231,987,484

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15120864GRCh37: NC_000023.10:g.(?_31558361)_(32077563_?)del, GRCh38: NC_000023.11:g.(?_31540244)_(32059446_?)del, NCBI36: NC_000023.9:g.(?_31468282)_(31987484_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000134548.3, VCV000145146.10

No genotype data were submitted for this variant

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