A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2495344



Internal ID17879961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17149864..17150629hg38UCSC Ensembl
Innerchr8:17007373..17008138hg19UCSC Ensembl
Innerchr8:17051744..17052509hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38766
hg19766
hg18766
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967569
Supporting Variants
SamplesHGDP01307
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)nssv2495344
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