A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983350



Internal ID18618544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76717858..76725636hg38UCSC Ensembl
Innerchr12:77111638..77119416hg19UCSC Ensembl
Innerchr12:75635769..75643547hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg387779
hg197779
hg187779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1938921, nssv1938924, nssv1938926, nssv1938928, nssv1938920, nssv1938925, nssv1938922, nssv1938929, nssv1938927, nssv1938923
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)nsv983350
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