A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716326



Internal ID139992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12697461..12697517hg38UCSC Ensembl
chr18:12697460..12697516hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519993
Supporting Variants
Samples
Known GenesCEP76, PSMG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716326
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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