A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265689



Internal ID22146139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:123680746..123688142hg38UCSC Ensembl
Outerchr2:124438322..124445718hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225960
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265689
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