A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976650



Internal ID18611856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:107719733..107728748hg38UCSC Ensembl
Innerchr12:108113510..108122525hg19UCSC Ensembl
Innerchr12:106637640..106646655hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg389016
hg199016
hg189016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1943843, nssv1944637, nssv1943839, nssv1943837, nssv1943840, nssv1943841, nssv1943842, nssv1943836, nssv1943838, nssv1944636
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)nsv976650
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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