A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263331



Internal ID22134190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18266220..18363671hg38UCSC Ensembl
Outerchr19:18377030..18474481hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3897452
hg1997452
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221880
Supporting Variants
SamplesHG00513
Known GenesJUND, KIAA1683, LSM4, MIR3188, PGPEP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263331
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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