A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973129



Internal ID18608344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120497866..120498366hg38UCSC Ensembl
Innerchr12:120935669..120936169hg19UCSC Ensembl
Innerchr12:119420052..119420552hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1945656, nssv1945653, nssv1945654, nssv1945648, nssv1945655, nssv1945657, nssv1945651, nssv1945649, nssv1945650, nssv1945652
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDYNLL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973129
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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