A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973119



Internal ID18608334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111666868..111670367hg38UCSC Ensembl
Innerchr12:112104672..112108171hg19UCSC Ensembl
Innerchr12:110589055..110592554hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383500
hg193500
hg183500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1944503, nssv1944507, nssv1944502, nssv1944504, nssv1944506, nssv1944500, nssv1944498, nssv1944499, nssv1944501, nssv1944505
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBRAP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973119
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer