A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2079042



Internal ID17788400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15813444..15822127hg38UCSC Ensembl
Innerchr17:15716758..15725441hg19UCSC Ensembl
Innerchr17:15657483..15666166hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg388684
hg198684
hg188684
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960421
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)nssv2079042
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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