A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263465



Internal ID22269090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76925196..76969538hg38UCSC Ensembl
Outerchr18:74637152..74681494hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248852
Supporting Variants
SamplesNA19238
Known GenesZNF236
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263465
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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