A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654081



Internal ID15044047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53252672..53255511hg38UCSC Ensembl
Innerchr3:53286688..53289527hg19UCSC Ensembl
Innerchr3:53261728..53264567hg18UCSC Ensembl
Innerchr3:53261728..53264567hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382840
hg192840
hg182840
hg172840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517233
Supporting Variants
Samples
Known GenesTKT
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv654081
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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