A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562754



Internal ID16350163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:94118540..94243092hg38UCSC Ensembl
Innerchr13:94770794..94895346hg19UCSC Ensembl
Innerchr13:93568795..93693347hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38124553
hg19124553
hg18124553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv817521
Samples
Known GenesGPC6, GPC6-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562754
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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