A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261609



Internal ID22256909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44326213..44340764hg38UCSC Ensembl
Outerchr17:42403581..42418132hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234800
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261609
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