A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2074141



Internal ID17803757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3664589..3666065hg38UCSC Ensembl
Innerchr17:3567883..3569359hg19UCSC Ensembl
Innerchr17:3514632..3516108hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381477
hg191477
hg181477
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960399
Supporting Variants
SamplesHGDP00778
Known GenesP2RX5-TAX1BP3, TAX1BP3
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)nssv2074141
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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