A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562727



Internal ID16003450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92308898..92386660hg38UCSC Ensembl
Innerchr13:92961151..93038913hg19UCSC Ensembl
Innerchr13:91759152..91836914hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3877763
hg1977763
hg1877763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148673
SamplesNINDS_55
Known GenesGPC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562727
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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