A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261749



Internal ID22221680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78829993..78847503hg38UCSC Ensembl
Outerchr18:76589993..76607503hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3817511
hg1917511
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210642
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261749
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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