A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694785



Internal ID15084751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55177658..55333162hg38UCSC Ensembl
Innerchr2:55404794..55560298hg19UCSC Ensembl
Innerchr2:55258298..55413802hg18UCSC Ensembl
Innerchr2:55316445..55471949hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38155505
hg19155505
hg18155505
hg17155505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522016
Supporting Variants
Samples
Known GenesCCDC88A, CLHC1, MIR4426, MTIF2, PRORSD1P, RPS27A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694785
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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