A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562406



Internal ID16349815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78295146..78331140hg38UCSC Ensembl
Innerchr13:78869281..78905275hg19UCSC Ensembl
Innerchr13:77767282..77803276hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3835995
hg1935995
hg1835995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3267n54
Supporting Variantsnssv1148506
SamplesHGDP01312
Known GenesRNF219-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562406
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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