A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688710



Internal ID112376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66219320..66232348hg38UCSC Ensembl
chr12:66613100..66626128hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3813029
hg1913029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496786
Supporting Variants
Samples
Known GenesIRAK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688710
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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