A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263302



Internal ID22309220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14616192..14624155hg38UCSC Ensembl
Outerchr19:14727004..14734967hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg387964
hg197964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216871
Supporting Variants
SamplesNA19240
Known GenesEMR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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