A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963774



Internal ID18599014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:218839421..218842082hg38UCSC Ensembl
Innerchr2:219704144..219706805hg19UCSC Ensembl
Innerchr2:219412388..219415049hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382662
hg192662
hg182662
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2221597, nssv2221596, nssv2221598, nssv2221590, nssv2221594, nssv2221595, nssv2221593, nssv2221599, nssv2221592, nssv2221591
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963774
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