A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983294



Internal ID18618488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25804271..25804861hg38UCSC Ensembl
Innerchr12:25957205..25957795hg19UCSC Ensembl
Innerchr12:25848472..25849062hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1920480, nssv1920484, nssv1920483, nssv1920481, nssv1920486, nssv1920485, nssv1920487, nssv1920479, nssv1920482, nssv1920488
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983294
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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