A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199308



Internal ID22348911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:34068179..34112435hg38UCSC Ensembl
Outerchr3:34109671..34153927hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3844257
hg1944257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270401, nssv14270399, nssv14270400
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199308
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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