A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519147



Internal ID15446440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158121282..158135013hg38UCSC Ensembl
Innerchr2:158977794..158991525hg19UCSC Ensembl
Innerchr2:158686040..158699771hg18UCSC Ensembl
Innerchr2:158803302..158817033hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3813732
hg1913732
hg1813732
hg1713732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696624
Samples
Known GenesUPP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519147
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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