A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216427



Internal ID22359028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181375273..181401349hg38UCSC Ensembl
Outerchr5:180802274..180828350hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274678, nssv14274679
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216427
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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