A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2225030



Internal ID17473574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233746375..233747202hg38UCSC Ensembl
Innerchr2:234655021..234655848hg19UCSC Ensembl
Innerchr2:234319760..234320587hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38828
hg19828
hg18828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961573
Supporting Variants
SamplesHGDP00927
Known GenesUGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2225030
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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