A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2088174



Internal ID17467926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27632926..27677731hg38UCSC Ensembl
Innerchr17:25959952..26004757hg19UCSC Ensembl
Innerchr17:22984079..23028884hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3844806
hg1944806
hg1844806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962298
Supporting Variants
SamplesHGDP00927
Known GenesLGALS9
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)nssv2088174
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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