A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2098480



Internal ID17817160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42938710..42945992hg38UCSC Ensembl
Innerchr17:41090727..41098009hg19UCSC Ensembl
Innerchr17:38344253..38351535hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387283
hg197283
hg187283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978427
Supporting Variants
SamplesHGDP00927
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)nssv2098480
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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