A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263339



Internal ID22134198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38760981..38799961hg38UCSC Ensembl
Outerchr19:39251621..39290601hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3838981
hg1938981
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225090
Supporting Variants
SamplesHG00513
Known GenesLGALS7, LGALS7B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263339
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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