A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515932



Internal ID15442989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:142996159..142999186hg38UCSC Ensembl
Innerchr2:143753728..143756755hg19UCSC Ensembl
Innerchr2:143470198..143473225hg18UCSC Ensembl
Innerchr2:143587460..143590487hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg383028
hg193028
hg183028
hg173028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662359, nssv658364, nssv688281, nssv665361
Samples
Known GenesKYNU
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515932
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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