A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214051



Internal ID22360815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:146169405..146176432hg38UCSC Ensembl
Outerchr5:145548968..145555995hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381377
hg191377
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276362
SamplesHG00733
Known GenesLARS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214051
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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