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nsv6634376

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:11,215,852
  • Description:GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 51240 SVs from 141 studies. See in: genome view    
Remapped(Score: Good):208,048-11,423,899Question Mark
Overlapping variant regions from other studies: 50887 SVs from 142 studies. See in: genome view    
Submitted genomic158,048-11,281,408Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartOuter Stop
nsv6634376RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr8208,04811,423,899
nsv6634376Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr8158,04811,281,408

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv18326425copy number lossMultipleMultipleSee casesPathogenicClinVarRCV002287568.1, VCV001708195.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartOuter Stop
nssv18326425RemappedGoodNC_000008.11:g.(20
8048_?)_(?_1142389
9)del
GRCh38.p12First PassNC_000008.11Chr8208,04811,423,899
nssv18326425Submitted genomicNC_000008.10:g.(15
8048_?)_(?_1128140
8)del
GRCh37 (hg19)NC_000008.10Chr8158,04811,281,408

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv18326425GRCh37: NC_000008.10:g.(158048_?)_(?_11281408)delcopy number lossunknownSee casesPathogenicClinVarRCV002287568.1, VCV001708195.11

No genotype data were submitted for this variant

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