A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698333



Internal ID15434985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47468805..47475402hg38UCSC Ensembl
Innerchr18:44995176..45001773hg19UCSC Ensembl
Innerchr18:43249174..43255771hg18UCSC Ensembl
Innerchr18:43249174..43255771hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386598
hg196598
hg186598
hg176598
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521709
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698333
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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