A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261223



Internal ID22119534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46965567..47005666hg38UCSC Ensembl
Outerchr17:45042933..45083032hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235581
Supporting Variants
SamplesHG00512
Known GenesMIR5089, RPRML
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261223
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