A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478804



Internal ID256351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5102000..5284000hg38UCSC Ensembl
chr10:5144192..5325963hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38182001
hg19181772
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17030483
Samples
Known GenesAKR1C3, AKR1C4, AKR1CL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478804
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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