A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261701



Internal ID22133618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3617572..3640052hg38UCSC Ensembl
Outerchr18:3617571..3640051hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3822481
hg1922481
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224574
Supporting Variants
SamplesHG00513
Known GenesDLGAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261701
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