A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562729



Internal ID16350138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92509593..92552174hg38UCSC Ensembl
Innerchr13:93161846..93204427hg19UCSC Ensembl
Innerchr13:91959847..92002428hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3842582
hg1942582
hg1842582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148674
Samples1780862404_A
Known GenesGPC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562729
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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