A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055347



Internal ID104737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43759575..43763554hg38UCSC Ensembl
chr12:44153378..44157357hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383980
hg193980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497602
Supporting Variants
Samples
Known GenesIRAK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055347
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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