A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263490



Internal ID22264477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50573597..50605995hg38UCSC Ensembl
Outerchr19:51076854..51109252hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3832399
hg1932399
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217990
Supporting Variants
SamplesNA19238
Known GenesSNAR-F
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263490
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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