A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682182



Internal ID15072148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146799468..147426802hg38UCSC Ensembl
Innerchr5:146179031..146806365hg19UCSC Ensembl
Innerchr5:146159224..146786558hg18UCSC Ensembl
Innerchr5:146159224..146786558hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38627335
hg19627335
hg18627335
hg17627335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519847
Supporting Variants
Samples
Known GenesDPYSL3, PPP2R2B, PPP2R2B-IT1, STK32A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682182
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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