A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547619



Internal ID16335028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119567481..119611980hg38UCSC Ensembl
Innerchr1:120110104..120154603hg19UCSC Ensembl
Innerchr1:119911627..119956126hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3844500
hg1944500
hg1844500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524n54
Supporting Variantsnssv1173124
SamplesHGDP00477
Known GenesHSD3BP4, LINC00622
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547619
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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