A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701766



Internal ID15438418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:593968..815980hg38UCSC Ensembl
Innerchr5:594083..816095hg19UCSC Ensembl
Innerchr5:647083..869095hg18UCSC Ensembl
Innerchr5:647083..869095hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38222013
hg19222013
hg18222013
hg17222013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525620
Supporting Variants
Samples
Known GenesCEP72, LOC100996325, TPPP, ZDHHC11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701766
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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