A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523033



Internal ID15103640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42751935..42919583hg38UCSC Ensembl
Innerchr5:42752037..42919685hg19UCSC Ensembl
Innerchr5:42787794..42955442hg18UCSC Ensembl
Innerchr5:42787794..42955442hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38167649
hg19167649
hg18167649
hg17167649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698716
Samples
Known GenesCCDC152, SEPP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523033
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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