A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2087743



Internal ID17866646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28021718..28022676hg38UCSC Ensembl
Innerchr17:26348744..26349702hg19UCSC Ensembl
Innerchr17:23372871..23373829hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38959
hg19959
hg18959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960453
Supporting Variants
SamplesHGDP01284
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)nssv2087743
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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