A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973117



Internal ID18608332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111381484..111389858hg38UCSC Ensembl
Innerchr12:111819288..111827662hg19UCSC Ensembl
Innerchr12:110303671..110312045hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg388375
hg198375
hg188375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1943518, nssv1943516, nssv1943512, nssv1943513, nssv1943521, nssv1943519, nssv1943517, nssv1943515, nssv1943520, nssv1943514
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)nsv973117
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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