A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976652



Internal ID18611858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112404852..112406170hg38UCSC Ensembl
Innerchr12:112842656..112843974hg19UCSC Ensembl
Innerchr12:111327039..111328357hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381319
hg191319
hg181319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1944316, nssv1944318, nssv1944311, nssv1944315, nssv1944317, nssv1944312, nssv1944319, nssv1944314, nssv1944313, nssv1944320
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)nsv976652
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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