A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2091296



Internal ID17770451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35564812..35567976hg38UCSC Ensembl
Innerchr17:33891831..33894995hg19UCSC Ensembl
Innerchr17:30915944..30919108hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383165
hg193165
hg183165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960465
Supporting Variants
SamplesHGDP00542
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)nssv2091296
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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