A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2091013



Internal ID17850308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32085566..32097081hg38UCSC Ensembl
Innerchr17:30412585..30424100hg19UCSC Ensembl
Innerchr17:27436698..27448213hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3811516
hg1911516
hg1811516
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962310
Supporting Variants
SamplesHGDP01029
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)nssv2091013
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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