A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3599349



Internal ID18550944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:3191285..3404426hg38UCSC Ensembl
Innerchr20:3171931..3385073hg19UCSC Ensembl
Innerchr20:3119931..3333073hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38213142
hg19213143
hg18213143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067207
Supporting Variants
Samples
Known GenesC20orf194, DDRGK1, ITPA, SLC4A11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3599349
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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