A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519253



Internal ID15099860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6262876..6269955hg38UCSC Ensembl
Innerchr1:6322936..6330015hg19UCSC Ensembl
Innerchr1:6245523..6252602hg18UCSC Ensembl
Innerchr1:6257202..6264281hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg387080
hg197080
hg187080
hg177080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696748
Samples
Known GenesACOT7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519253
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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