A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562714



Internal ID16003437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:91404657..91652720hg38UCSC Ensembl
Innerchr13:92056911..92304974hg19UCSC Ensembl
Innerchr13:90854912..91102975hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38248064
hg19248064
hg18248064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3318n54
Supporting Variantsnssv817462
Samples
Known GenesGPC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562714
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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