A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702260



Internal ID15092226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131975708..132593842hg38UCSC Ensembl
Innerchr2:132733281..133351415hg19UCSC Ensembl
Innerchr2:132449751..133067885hg18UCSC Ensembl
Innerchr2:132567013..133185147hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38618135
hg19618135
hg18618135
hg17618135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526029
Supporting Variants
Samples
Known GenesANKRD30BL, GPR39, MIR663B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702260
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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