A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270199



Internal ID22122382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:107305802..107325499hg38UCSC Ensembl
Outerchr3:107024649..107044346hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3819698
hg1919698
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207902
Supporting Variants
SamplesHG00512
Known GenesLINC00883
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270199
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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