A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215943



Internal ID22362103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174725097..174745430hg38UCSC Ensembl
Outerchr5:174152100..174172433hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381109
hg191109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275816, nssv14275817
SamplesNA19240, HG00733
Known GenesMSX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215943
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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