A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973076



Internal ID18261605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56117246..56118923hg38UCSC Ensembl
Innerchr12:56511030..56512707hg19UCSC Ensembl
Innerchr12:54797297..54798974hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381678
hg191678
hg181678
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1932919, nssv1932920, nssv1932922, nssv1932921, nssv1932915, nssv1932914, nssv1932918, nssv1932916, nssv1932917, nssv1932913
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRPL41, ZC3H10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973076
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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