A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2224913



Internal ID17407102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233709463..233718217hg38UCSC Ensembl
Innerchr2:234618109..234626863hg19UCSC Ensembl
Innerchr2:234282848..234291602hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388755
hg198755
hg188755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963781
Supporting Variants
SamplesHGDP00521
Known GenesUGT1A10, 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)nssv2224913
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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