A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975231



Internal ID18610439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118999237..119003995hg38UCSC Ensembl
Innerchr11:118869947..118874705hg19UCSC Ensembl
Innerchr11:118375157..118379915hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg384759
hg194759
hg184759
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1906504, nssv1906497, nssv1906503, nssv1906502, nssv1906499, nssv1905718, nssv1905719, nssv1906501, nssv1906498, nssv1906500
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC84, RPL23AP64
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975231
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