A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2080320



Internal ID17816190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16656256..16684066hg38UCSC Ensembl
Innerchr17:16559570..16587380hg19UCSC Ensembl
Innerchr17:16500295..16528105hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3827811
hg1927811
hg1827811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978372
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)nssv2080320
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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