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nsv4676189

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:4,123,766
  • Description:
    GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 25208 SVs from 117 studies. See in: genome view    
Remapped(Score: Perfect):260,912-4,384,677Question Mark
Overlapping variant regions from other studies: 25208 SVs from 117 studies. See in: genome view    
Submitted genomic260,912-4,384,674Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4676189RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000019.10Chr19260,9124,384,677
nsv4676189Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000019.9Chr19260,9124,384,674

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16209035copy number gainMultipleMultipleSee casesPathogenicClinVarRCV001007443.1, VCV000816518.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16209035RemappedPerfectNC_000019.10:g.(?_
260912)_(4384677_?
)dup
GRCh38.p12First PassNC_000019.10Chr19260,9124,384,677
nssv16209035Submitted genomicNC_000019.9:g.(?_2
60912)_(4384674_?)
dup
GRCh37 (hg19)NC_000019.9Chr19260,9124,384,674

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16209035GRCh37: NC_000019.9:g.(?_260912)_(4384674_?)dupcopy number gainunknownSee casesPathogenicClinVarRCV001007443.1, VCV000816518.13

No genotype data were submitted for this variant

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