A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200908



Internal ID22350294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233695357..233738613hg38UCSC Ensembl
Outerchr2:234604003..234647259hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3843257
hg1943257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263896, nssv14263897
SamplesNA19238, HG00513
Known GenesUGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200908
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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