A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983369



Internal ID18271877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120450161..120450782hg38UCSC Ensembl
Innerchr12:120887964..120888585hg19UCSC Ensembl
Innerchr12:119372347..119372968hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38622
hg19622
hg18622
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1945459, nssv1945463, nssv1945462, nssv1945454, nssv1945460, nssv1945456, nssv1945457, nssv1945455, nssv1945458, nssv1945461
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGATC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983369
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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