A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263294



Internal ID22284960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57252023..57269115hg38UCSC Ensembl
Outerchr19:57763391..57780483hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3817093
hg1917093
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219521
Supporting Variants
SamplesNA19239
Known GenesZNF805
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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