A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv570244



Internal ID16010967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82163886..82280914hg38UCSC Ensembl
Innerchr15:82456227..82573255hg19UCSC Ensembl
Innerchr15:80243282..80360310hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38117029
hg19117029
hg18117029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4682n54
Supporting Variantsnssv1149247
SamplesNINDS_115
Known GenesEFTUD1, FAM154B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv570244
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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