A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717090



Internal ID140756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31726813..31735502hg38UCSC Ensembl
chr18:29306776..29315465hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg388690
hg198690
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524785
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717090
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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