A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717931



Internal ID141597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46962100..46969900hg38UCSC Ensembl
chr18:44542063..44549423hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg387801
hg197361
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427491
Supporting Variants
Samples
Known GenesKATNAL2, TCEB3C, TCEB3CL, TCEB3CL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717931
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.5


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