A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261908



Internal ID22145599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48664671..48673399hg38UCSC Ensembl
Outerchr18:46191042..46199770hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384233
hg194233
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243415
Supporting Variants
SamplesHG00514
Known GenesCTIF, MIR4743
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261908
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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