A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975508



Internal ID18610716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66036524..66041334hg38UCSC Ensembl
Innerchr12:66430304..66435114hg19UCSC Ensembl
Innerchr12:64716571..64721381hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384811
hg194811
hg184811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1935878, nssv1935877, nssv1935876, nssv1935875, nssv1935881, nssv1935879, nssv1935874, nssv1935873, nssv1935882, nssv1935880
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)nsv975508
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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