A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2090680



Internal ID17864166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29716189..29720196hg38UCSC Ensembl
Innerchr17:28043207..28047214hg19UCSC Ensembl
Innerchr17:25067333..25071340hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384008
hg194008
hg184008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962302
Supporting Variants
SamplesHGDP01284
Known GenesSSH2
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)nssv2090680
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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