A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563382



Internal ID16004105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113754200..113886735hg38UCSC Ensembl
Innerchr13:114457173..114589708hg19UCSC Ensembl
Innerchr13:113524235..113656958hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38132536
hg19132536
hg18132724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3450n54
Supporting Variantsnssv820676
Samples
Known GenesGAS6, GAS6-AS1, GAS6-AS2, TMEM255B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563382
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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