A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261836



Internal ID22133672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:22231668..22238025hg38UCSC Ensembl
Outerchr18:19811631..19817988hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245985
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261836
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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