A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983320



Internal ID18618514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48903473..48904283hg38UCSC Ensembl
Innerchr12:49297256..49298066hg19UCSC Ensembl
Innerchr12:47583523..47584333hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38811
hg19811
hg18811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1927500, nssv1927492, nssv1927497, nssv1927498, nssv1927496, nssv1927493, nssv1927494, nssv1927499, nssv1927495, nssv1927491
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC65
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983320
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