A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063600



Internal ID19152819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:449912..517892hg38UCSC Ensembl
Innerchr20:430556..498536hg19UCSC Ensembl
Innerchr20:378556..446536hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3867981
hg1967981
hg1867981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4221n100
Supporting Variantsnssv3589956
Samples
Known GenesCSNK2A1, TBC1D20
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063600
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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