A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215470



Internal ID22361793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184962929..184972259hg38UCSC Ensembl
Outerchr4:185884083..185893413hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381306
hg191306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274280, nssv14274013, nssv14274014, nssv14274016, nssv14274015
SamplesHG00512, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215470
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer