A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198385



Internal ID22348114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:105261414..105273276hg38UCSC Ensembl
Outerchr3:104980258..104992120hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3811863
hg1911863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271538, nssv14271537
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198385
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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