A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276244



Internal ID22198600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80801422..80805749hg38UCSC Ensembl
Outerchr5:80097241..80101568hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382965
hg192965
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220158
Supporting Variants
SamplesHG00732
Known GenesMSH3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276244
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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