A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263579



Internal ID22120256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:9160910..9178714hg38UCSC Ensembl
Outerchr19:9271586..9289390hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3817805
hg1917805
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216697
Supporting Variants
SamplesHG00512
Known GenesZNF317
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263579
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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