A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716292



Internal ID139958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12362724..12362776hg38UCSC Ensembl
chr18:12362723..12362775hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146027
Supporting Variants
Samples
Known GenesAFG3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716292
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.015964


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