A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983338



Internal ID18618532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63271289..63272975hg38UCSC Ensembl
Innerchr12:63665069..63666755hg19UCSC Ensembl
Innerchr12:61951336..61953022hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381687
hg191687
hg181687
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1935449, nssv1935444, nssv1935448, nssv1935445, nssv1935443, nssv1935442, nssv1935446, nssv1935447, nssv1935440, nssv1935441
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)nsv983338
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