A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273216



Internal ID22294986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7822918..7866680hg38UCSC Ensembl
Outerchr4:7824645..7868407hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217021
Supporting Variants
SamplesNA19240
Known GenesAFAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273216
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