A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971685



Internal ID18606902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94891038..94892910hg38UCSC Ensembl
Innerchr8:95903266..95905138hg19UCSC Ensembl
Innerchr8:95972442..95974314hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381873
hg191873
hg181873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2513411, nssv2513414, nssv2513415, nssv2513419, nssv2513420, nssv2513416, nssv2513413, nssv2513418, nssv2513417, nssv2513412
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCNE2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971685
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