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nsv4675923

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:8,579,392
  • Description:GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 34775 SVs from 133 studies. See in: genome view    
Remapped(Score: Good):162,031,003-170,610,394Question Mark
Overlapping variant regions from other studies: 34015 SVs from 133 studies. See in: genome view    
Submitted genomic162,452,035-170,919,482Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4675923RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr6162,031,003170,610,394
nsv4675923Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr6162,452,035170,919,482

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16208100copy number lossMultipleMultiplenot providedPathogenicClinVarRCV001005874.1, VCV000814897.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16208100RemappedGoodNC_000006.12:g.(?_
162031003)_(170610
394_?)del
GRCh38.p12First PassNC_000006.12Chr6162,031,003170,610,394
nssv16208100Submitted genomicNC_000006.11:g.(?_
162452035)_(170919
482_?)del
GRCh37 (hg19)NC_000006.11Chr6162,452,035170,919,482

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16208100GRCh37: NC_000006.11:g.(?_162452035)_(170919482_?)delcopy number lossgermlinenot providedPathogenicClinVarRCV001005874.1, VCV000814897.11

No genotype data were submitted for this variant

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