A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273920



Internal ID22279017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:109837143..109843886hg38UCSC Ensembl
Outerchr4:110758299..110765042hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg382041
hg192041
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212838
Supporting Variants
SamplesNA19239
Known GenesRRH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273920
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