A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945280



Internal ID18592131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:211660206..211662861hg38UCSC Ensembl
Innerchr1:211833548..211836203hg19UCSC Ensembl
Innerchr1:209900171..209902826hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382656
hg192656
hg182656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1818406, nssv1818410, nssv1818411, nssv1818415, nssv1818413, nssv1818407, nssv1818408, nssv1818409, nssv1818412, nssv1818414
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNEK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945280
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