A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518263



Internal ID15098870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232375033..232444838hg38UCSC Ensembl
Innerchr2:233239743..233309548hg19UCSC Ensembl
Innerchr2:232947987..233017792hg18UCSC Ensembl
Innerchr2:233065248..233135053hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3869806
hg1969806
hg1869806
hg1769806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695694
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518263
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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