A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2509444



Internal ID17874849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:79570574..79572198hg38UCSC Ensembl
Innerchr8:80482809..80484433hg19UCSC Ensembl
Innerchr8:80645364..80646988hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381625
hg191625
hg181625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971326
Supporting Variants
SamplesHGDP01284
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2509444
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer