A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2224220



Internal ID17488429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233617748..233650941hg38UCSC Ensembl
Innerchr2:234526394..234559587hg19UCSC Ensembl
Innerchr2:234191133..234224326hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3833194
hg1933194
hg1833194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961572
Supporting Variants
SamplesHGDP00998
Known GenesUGT1A10, UGT1A8
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)nssv2224220
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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