A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2505472



Internal ID17786239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:62855530..62856699hg38UCSC Ensembl
Innerchr8:63768089..63769258hg19UCSC Ensembl
Innerchr8:63930643..63931812hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381170
hg191170
hg181170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967599
Supporting Variants
SamplesHGDP00665
Known GenesNKAIN3
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)nssv2505472
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