A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263492



Internal ID22269070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50931303..50933173hg38UCSC Ensembl
Outerchr19:51434559..51436429hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg381871
hg191871
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212702
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263492
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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