A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562408



Internal ID16003131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78566708..78633453hg38UCSC Ensembl
Innerchr13:79140843..79207588hg19UCSC Ensembl
Innerchr13:78038844..78105589hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3866746
hg1966746
hg1866746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3268n54
Supporting Variantsnssv1148509
Samples1780862306_A
Known GenesPOU4F1, RNF219, RNF219-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562408
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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