A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263588



Internal ID22306858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12579033..12617357hg38UCSC Ensembl
Outerchr19:12689847..12728171hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3838325
hg1938325
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210460
Supporting Variants
SamplesNA19240
Known GenesZNF490, ZNF791
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263588
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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