A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964856



Internal ID18600092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56274845..56276545hg38UCSC Ensembl
Innerchr5:55570672..55572372hg19UCSC Ensembl
Innerchr5:55606429..55608129hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381701
hg191701
hg181701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2357040, nssv2357031, nssv2357038, nssv2357039, nssv2357035, nssv2357034, nssv2357032, nssv2357033, nssv2357037, nssv2357036
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964856
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