A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561399



Internal ID16002122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31160464..31297526hg38UCSC Ensembl
Innerchr13:31734601..31871663hg19UCSC Ensembl
Innerchr13:30632601..30769663hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38137063
hg19137063
hg18137063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv807248
Samples
Known GenesB3GALTL, HSPH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561399
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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