A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063539



Internal ID19152758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:80653..158935hg38UCSC Ensembl
Innerchr20:61294..139576hg19UCSC Ensembl
Innerchr20:9294..87576hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3878283
hg1978283
hg1878283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589950
Samples
Known GenesDEFB125, DEFB126, DEFB127
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063539
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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