A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976646



Internal ID18611852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93035410..93036218hg38UCSC Ensembl
Innerchr12:93429186..93429994hg19UCSC Ensembl
Innerchr12:91953317..91954125hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38809
hg19809
hg18809
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1940798, nssv1940794, nssv1940792, nssv1940801, nssv1940800, nssv1940793, nssv1940799, nssv1940796, nssv1940795, nssv1940797
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC643339
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976646
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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