A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563230



Internal ID16350639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112744470..112784143hg38UCSC Ensembl
Innerchr13:113398784..113438457hg19UCSC Ensembl
Innerchr13:112446785..112486458hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3839674
hg1939674
hg1839674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148694
SamplesHGDP01413
Known GenesATP11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563230
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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