A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224405



Internal ID22367848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:52512642..52541343hg38UCSC Ensembl
Outerchr5:51808476..51837177hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382661
hg192661
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276155, nssv14276156, nssv14276153, nssv14276157, nssv14276154, nssv14276159, nssv14276158, nssv14276160
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224405
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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