A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2085343



Internal ID17730166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21279429..21281754hg38UCSC Ensembl
Innerchr17:21182741..21185066hg19UCSC Ensembl
Innerchr17:21123334..21125659hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382326
hg192326
hg182326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978394
Supporting Variants
SamplesHGDP00456
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)nssv2085343
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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