A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578744



Internal ID16019467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:18269262..18282063hg38UCSC Ensembl
Innerchr19:18380072..18392873hg19UCSC Ensembl
Innerchr19:18241072..18253873hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3812802
hg1912802
hg1812802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv895735
Samples
Known GenesJUND, KIAA1683
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578744
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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