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nsv6313788

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:7,924,506
  • Description:GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454) AND not specified

Genome View

Select assembly:
Overlapping variant regions from other studies: 18932 SVs from 115 studies. See in: genome view    
Remapped(Score: Perfect):82,890,132-90,814,637Question Mark
Overlapping variant regions from other studies: 18933 SVs from 115 studies. See in: genome view    
Submitted genomic82,185,951-90,110,454Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6313788RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr582,890,13290,814,637
nsv6313788Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr582,185,95190,110,454

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17970035copy number lossMultipleMultiplenot specifiedPathogenicClinVarRCV002053507.3, VCV001527175.3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17970035RemappedPerfectNC_000005.10:g.(?_
82890132)_(9081463
7_?)del
GRCh38.p12First PassNC_000005.10Chr582,890,13290,814,637
nssv17970035Submitted genomicNC_000005.9:g.(?_8
2185951)_(90110454
_?)del
GRCh37 (hg19)NC_000005.9Chr582,185,95190,110,454

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17970035GRCh37: NC_000005.9:g.(?_82185951)_(90110454_?)delcopy number lossgermlinenot specifiedPathogenicClinVarRCV002053507.3, VCV001527175.3

No genotype data were submitted for this variant

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