A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967583



Internal ID18256125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42723521..42729046hg38UCSC Ensembl
Innerchr8:42578664..42584189hg19UCSC Ensembl
Innerchr8:42697821..42703346hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg385526
hg195526
hg185526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2501561, nssv2501567, nssv2501566, nssv2501564, nssv2501569, nssv2501568, nssv2501563, nssv2501560, nssv2501562, nssv2501565
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCHRNB3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967583
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