A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274191



Internal ID22117935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:107551069..107571538hg38UCSC Ensembl
Outerchr4:108472226..108492695hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381698
hg191698
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220755
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274191
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