A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518764



Internal ID15099371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120310110..120312714hg38UCSC Ensembl
Innerchr12:120747913..120750517hg19UCSC Ensembl
Innerchr12:119232296..119234900hg18UCSC Ensembl
Innerchr12:119210633..119213237hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382605
hg192605
hg182605
hg172605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696214
Samples
Known GenesSIRT4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518764
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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