A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2508162



Internal ID17847813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67584755..67587336hg38UCSC Ensembl
Innerchr8:68496990..68499571hg19UCSC Ensembl
Innerchr8:68659544..68662125hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg382582
hg192582
hg182582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967600
Supporting Variants
SamplesHGDP01029
Known GenesCPA6
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)nssv2508162
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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