A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261356



Internal ID22133508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63021817..63072935hg38UCSC Ensembl
Outerchr17:61099178..61150296hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3851119
hg1951119
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224369
Supporting Variants
SamplesHG00513
Known GenesMIR548W, TANC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261356
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer