A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221529



Internal ID22365887
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4310n152
Supporting Variantsnssv14262788, nssv14262789, nssv14262787
SamplesNA19239, HG00732, HG00733
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)nsv3221529
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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