A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2224317



Internal ID17488651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233671847..233673067hg38UCSC Ensembl
Innerchr2:234580493..234581713hg19UCSC Ensembl
Innerchr2:234245232..234246452hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381221
hg191221
hg181221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979184
Supporting Variants
SamplesHGDP00998
Known GenesUGT1A10, 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)nssv2224317
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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