A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612568



Internal ID16053291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140534649..141326581hg38UCSC Ensembl
Innerchr8:141544748..142336680hg19UCSC Ensembl
Innerchr8:141613930..142405862hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38791933
hg19791933
hg18791933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124288
Samples
Known GenesAGO2, DENND3, PTK2, RNU6-31P, SLC45A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612568
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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