A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263582



Internal ID22279567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12436807..12450597hg38UCSC Ensembl
Outerchr19:12547621..12561411hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3813791
hg1913791
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220758
Supporting Variants
SamplesNA19239
Known GenesZNF443
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263582
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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