A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562749



Internal ID16350158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93431099..93610953hg38UCSC Ensembl
Innerchr13:94083352..94263206hg19UCSC Ensembl
Innerchr13:92881353..93061207hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38179855
hg19179855
hg18179855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv817516
Samples
Known GenesGPC6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562749
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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