A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2225718



Internal ID17520200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233728231..233730158hg38UCSC Ensembl
Innerchr2:234636877..234638804hg19UCSC Ensembl
Innerchr2:234301616..234303543hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381928
hg191928
hg181928
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963782
Supporting Variants
SamplesHGDP01284
Known GenesUGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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)nssv2225718
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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