A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2089357



Internal ID17849970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28466665..28469275hg38UCSC Ensembl
Innerchr17:26793683..26796293hg19UCSC Ensembl
Innerchr17:23817810..23820420hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382611
hg192611
hg182611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960456
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)nssv2089357
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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