A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17030491



Internal ID88038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5179511..5233082hg38UCSC Ensembl
chr10:5221474..5275045hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3853572
hg1953572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481226
Supporting Variants
Samples
Known GenesAKR1C4, AKR1CL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17030491
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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