A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064485



Internal ID19153704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:88630..217034hg38UCSC Ensembl
Innerchr20:69271..197675hg19UCSC Ensembl
Innerchr20:17271..145675hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38128405
hg19128405
hg18128405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4220n100
Supporting Variantsnssv3589953
Samples
Known GenesDEFB125, DEFB126, DEFB127, DEFB128
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064485
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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