A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2416771



Internal ID17782267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:98778495..98781332hg38UCSC Ensembl
Innerchr6:99226371..99229208hg19UCSC Ensembl
Innerchr6:99333092..99335929hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg382838
hg192838
hg182838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969430
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)nssv2416771
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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