A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201835



Internal ID22351081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:119933453..119960412hg38UCSC Ensembl
Outerchr3:119652300..119679259hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3826960
hg1926960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270212, nssv14270213
SamplesNA19238, NA19240
Known GenesGSK3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201835
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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