A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519198



Internal ID15446491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86881088..87471677hg38UCSC Ensembl
Innerchr2:87108211..87771196hg19UCSC Ensembl
Innerchr2:86961722..87552311hg18UCSC Ensembl
Innerchr2:87019869..87610458hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38590590
hg19662986
hg18590590
hg17590590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696683
Samples
Known GenesANAPC1P1, LINC00152, LOC285074, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2, RGPD1, RGPD2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519198
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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