A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963742



Internal ID18252296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165129198..165130163hg38UCSC Ensembl
Innerchr2:165985708..165986673hg19UCSC Ensembl
Innerchr2:165693954..165694919hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38966
hg19966
hg18966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2208926, nssv2208928, nssv2208931, nssv2208933, nssv2208932, nssv2208930, nssv2208927, nssv2208934, nssv2208925, nssv2208929
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSCN3A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963742
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