A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971327



Internal ID18606547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:80300798..80301388hg38UCSC Ensembl
Innerchr8:81213033..81213623hg19UCSC Ensembl
Innerchr8:81375588..81376178hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2510432, nssv2510435, nssv2510426, nssv2510430, nssv2510429, nssv2510434, nssv2510433, nssv2510427, nssv2510428, nssv2510431
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)nsv971327
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