A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2505683



Internal ID17786717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:63408418..63410339hg38UCSC Ensembl
Innerchr8:64320976..64322897hg19UCSC Ensembl
Innerchr8:64483530..64485451hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381922
hg191922
hg181922
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971316
Supporting Variants
SamplesHGDP00665
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)nssv2505683
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