A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983365



Internal ID18271873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112408263..112408880hg38UCSC Ensembl
Innerchr12:112846067..112846684hg19UCSC Ensembl
Innerchr12:111330450..111331067hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38618
hg19618
hg18618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1945205, nssv1945200, nssv1945208, nssv1945206, nssv1945203, nssv1945207, nssv1945202, nssv1945201, nssv1945209, nssv1945204
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983365
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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