A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221872



Internal ID22366115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178555484..178594900hg38UCSC Ensembl
Outerchr5:177982485..178021901hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274628, nssv14274627
SamplesNA19238, NA19240
Known GenesCOL23A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221872
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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