A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271475



Internal ID22152116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50658873..50691062hg38UCSC Ensembl
Outerchr3:50696304..50728493hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3832190
hg1932190
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204170
Supporting Variants
SamplesHG00514
Known GenesDOCK3, MIR4787
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271475
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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