A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278917



Internal ID22124313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:95490998..95518890hg38UCSC Ensembl
Outerchr6:95938874..95966766hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg381723
hg191723
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213039
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278917
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