A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525988



Internal ID15106595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57934385..58200651hg38UCSC Ensembl
Innerchr2:58161520..58427786hg19UCSC Ensembl
Innerchr2:58015024..58281290hg18UCSC Ensembl
Innerchr2:58073171..58339437hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38266267
hg19266267
hg18266267
hg17266267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702210
Samples
Known GenesFANCL, VRK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525988
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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