A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527324



Internal ID15454617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:190559263..190563010hg38UCSC Ensembl
Innerchr2:191423989..191427736hg19UCSC Ensembl
Innerchr2:191132234..191135981hg18UCSC Ensembl
Innerchr2:191249495..191253242hg17UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg383748
hg193748
hg183748
hg173748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703749
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527324
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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