A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973090



Internal ID18608305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70445044..70446918hg38UCSC Ensembl
Innerchr12:70838824..70840698hg19UCSC Ensembl
Innerchr12:69125091..69126965hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381875
hg191875
hg181875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1937626, nssv1937627, nssv1937622, nssv1937621, nssv1937624, nssv1937628, nssv1937623, nssv1937620, nssv1937625, nssv1937619
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)nsv973090
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