A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262789



Internal ID22280519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50053383..50134307hg38UCSC Ensembl
Outerchr19:50556640..50637564hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3880925
hg1980925
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221529
Supporting Variants
SamplesNA19239
Known GenesFLJ26850, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262789
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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