A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719669



Internal ID143335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76978672..76979093hg38UCSC Ensembl
chr18:74690628..74691049hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521181
Supporting Variants
Samples
Known GenesMBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719669
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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