A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961905



Internal ID18250465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166198416..166199823hg38UCSC Ensembl
Innerchr2:167054926..167056333hg19UCSC Ensembl
Innerchr2:166763172..166764579hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381408
hg191408
hg181408
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2210110, nssv2210112, nssv2210106, nssv2210114, nssv2210105, nssv2210109, nssv2210113, nssv2210108, nssv2210107, nssv2210111
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSCN9A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961905
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