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nsv6634391

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:12,690,321
  • Description:GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 20510 SVs from 104 studies. See in: genome view    
Remapped(Score: Good):143,313,746-156,004,066Question Mark
Overlapping variant regions from other studies: 20376 SVs from 104 studies. See in: genome view    
Submitted genomic142,401,540-155,233,731Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartOuter Stop
nsv6634391RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000023.11ChrX143,313,746156,004,066
nsv6634391Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000023.10ChrX142,401,540155,233,731

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv18326477copy number lossMultipleMultipleSee casesPathogenicClinVarRCV002292203.1, VCV001710916.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartOuter Stop
nssv18326477RemappedGoodNC_000023.11:g.(14
3313746_?)_(?_1560
04066)del
GRCh38.p12First PassNC_000023.11ChrX143,313,746156,004,066
nssv18326477Submitted genomicNC_000023.10:g.(14
2401540_?)_(?_1552
33731)del
GRCh37 (hg19)NC_000023.10ChrX142,401,540155,233,731

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv18326477GRCh37: NC_000023.10:g.(142401540_?)_(?_155233731)delcopy number lossunknownSee casesPathogenicClinVarRCV002292203.1, VCV001710916.11

No genotype data were submitted for this variant

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