A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2088075



Internal ID17509016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27463827..27466314hg38UCSC Ensembl
Innerchr17:25790853..25793340hg19UCSC Ensembl
Innerchr17:22814980..22817467hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg382488
hg192488
hg182488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978402
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)nssv2088075
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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