A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704940



Internal ID15094906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:3190691..3242579hg38UCSC Ensembl
Innerchr20:3171337..3223225hg19UCSC Ensembl
Innerchr20:3119337..3171225hg18UCSC Ensembl
Innerchr20:3119337..3171225hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3851889
hg1951889
hg1851889
hg1751889
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528355
Supporting Variants
Samples
Known GenesDDRGK1, ITPA, SLC4A11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704940
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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