A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653055



Internal ID15043021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33443111..33451373hg38UCSC Ensembl
Innerchr2:33668178..33676440hg19UCSC Ensembl
Innerchr2:33521682..33529944hg18UCSC Ensembl
Innerchr2:33579829..33588091hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg388263
hg198263
hg188263
hg178263
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517737
Supporting Variants
Samples
Known GenesRASGRP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv653055
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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