A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519096



Internal ID15099703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143301592..143306267hg38UCSC Ensembl
Innerchr2:144059161..144063836hg19UCSC Ensembl
Innerchr2:143775631..143780306hg18UCSC Ensembl
Innerchr2:143892893..143897568hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg384676
hg194676
hg184676
hg174676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696570
Samples
Known GenesARHGAP15
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519096
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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