A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263290



Internal ID22269591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55664621..55732886hg38UCSC Ensembl
Outerchr19:56175987..56244252hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3868266
hg1968266
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211070
Supporting Variants
SamplesNA19239
Known GenesEPN1, NLRP9, U2AF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263290
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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