A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522519



Internal ID15449812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171730057..171743800hg38UCSC Ensembl
Innerchr2:172586567..172600310hg19UCSC Ensembl
Innerchr2:172294813..172308556hg18UCSC Ensembl
Innerchr2:172412074..172425817hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3813744
hg1913744
hg1813744
hg1713744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705889
Samples
Known GenesDYNC1I2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522519
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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