A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522064



Internal ID15102671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100715786..101074310hg38UCSC Ensembl
Innerchr1:101181342..101539866hg19UCSC Ensembl
Innerchr1:100953930..101312454hg18UCSC Ensembl
Innerchr1:100893363..101251887hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38358525
hg19358525
hg18358525
hg17358525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694834
Samples
Known GenesDPH5, EXTL2, SLC30A7, VCAM1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522064
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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