A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2093082



Internal ID17782382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37139902..37144238hg38UCSC Ensembl
Innerchr17:35496827..35501162hg19UCSC Ensembl
Innerchr17:32570940..32575275hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg384337
hg194336
hg184336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960476
Supporting Variants
SamplesHGDP00665
Known GenesACACA
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)nssv2093082
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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