A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977483



Internal ID18612689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:68421081..68422912hg38UCSC Ensembl
Innerchr14:68887798..68889629hg19UCSC Ensembl
Innerchr14:67957551..67959382hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381832
hg191832
hg181832
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1991087, nssv1991086, nssv1991084, nssv1991085, nssv1991078, nssv1991079, nssv1991081, nssv1991083, nssv1991080, nssv1991082
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRAD51B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977483
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