A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066598



Internal ID18809129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:422749..503206hg38UCSC Ensembl
Innerchr20:403393..483850hg19UCSC Ensembl
Innerchr20:351393..431850hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3880458
hg1980458
hg1880458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589955
Samples
Known GenesCSNK2A1, RBCK1, TBC1D20
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066598
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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