A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609531



Internal ID16050254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1768870..2267169hg38UCSC Ensembl
Innerchr8:1717036..2212943hg19UCSC Ensembl
Innerchr8:1704443..2200350hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38498300
hg19495908
hg18495908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1103621
Samples
Known GenesARHGEF10, CLN8, KBTBD11, MIR596, MIR7160, MYOM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609531
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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