A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263382



Internal ID22202637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12289569..12315196hg38UCSC Ensembl
Outerchr19:12400384..12426010hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3825628
hg1925627
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215137
Supporting Variants
SamplesHG00732
Known GenesZNF44
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263382
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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