A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976637



Internal ID18611843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66234062..66234654hg38UCSC Ensembl
Innerchr12:66627842..66628434hg19UCSC Ensembl
Innerchr12:64914109..64914701hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38593
hg19593
hg18593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1937288, nssv1937295, nssv1937287, nssv1937293, nssv1937292, nssv1937294, nssv1937286, nssv1937289, nssv1937290, nssv1937291
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIRAK3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976637
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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