A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224330



Internal ID22367795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:65160537..65173204hg38UCSC Ensembl
Outerchr5:64456364..64469031hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381625
hg191625
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275214, nssv14275216, nssv14275215
SamplesNA19239, HG00731, HG00732
Known GenesADAMTS6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224330
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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