A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212373



Internal ID22359641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:118861889..118871280hg38UCSC Ensembl
Outerchr5:118197584..118206975hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276825, nssv14276823, nssv14276821, nssv14276822, nssv14276824
SamplesNA19238, NA19239, HG00732, NA19240, HG00733
Known GenesDTWD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212373
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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