A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562746



Internal ID16350155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92767109..92854611hg38UCSC Ensembl
Innerchr13:93419362..93506864hg19UCSC Ensembl
Innerchr13:92217363..92304865hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3887503
hg1987503
hg1887503
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148675
SamplesNINDS_156
Known GenesGPC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562746
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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