A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2110869



Internal ID17435216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68209538..68229828hg38UCSC Ensembl
Innerchr17:66205679..66225969hg19UCSC Ensembl
Innerchr17:63717274..63737564hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3820291
hg1920291
hg1820291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960147
Supporting Variants
SamplesHGDP00665
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)nssv2110869
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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