A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562961



Internal ID16350370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:101239108..101253794hg38UCSC Ensembl
Innerchr13:101891459..101906145hg19UCSC Ensembl
Innerchr13:100689460..100704146hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3814687
hg1914687
hg1814687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3364n54
Supporting Variantsnssv818134
Samples
Known GenesNALCN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562961
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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