A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716806



Internal ID140472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26483308..26485998hg38UCSC Ensembl
chr18:24063272..24065962hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382691
hg192691
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523023
Supporting Variants
Samples
Known GenesKCTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716806
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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