A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715854



Internal ID139520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2183428..2418030hg38UCSC Ensembl
chr18:2183428..2418029hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38234603
hg19234602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528927
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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