A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578741



Internal ID16366150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:17335702..17339637hg38UCSC Ensembl
Innerchr19:17446511..17450446hg19UCSC Ensembl
Innerchr19:17307511..17311446hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg383936
hg193936
hg183936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv895732
Samples
Known GenesGTPBP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578741
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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