A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523591



Internal ID15104198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143216291..143238941hg38UCSC Ensembl
Innerchr2:143973860..143996510hg19UCSC Ensembl
Innerchr2:143690330..143712980hg18UCSC Ensembl
Innerchr2:143807592..143830242hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3822651
hg1922651
hg1822651
hg1722651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699381
Samples
Known GenesARHGAP15
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523591
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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