A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266908



Internal ID22187256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61976030..61982986hg38UCSC Ensembl
Outerchr20:60551086..60558042hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38746
hg19746
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247893
Supporting Variants
SamplesHG00731
Known GenesTAF4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266908
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