A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562717



Internal ID16350126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:91483091..91598200hg38UCSC Ensembl
Innerchr13:92135345..92250454hg19UCSC Ensembl
Innerchr13:90933346..91048455hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38115110
hg19115110
hg18115110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3319n54
Supporting Variantsnssv817469, nssv817465, nssv817466, nssv817468, nssv817467
Samples
Known GenesGPC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562717
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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