A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486780



Internal ID264136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4972000..5102500hg38UCSC Ensembl
chr10:5014192..5144692hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38130501
hg19130501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029547
Samples
Known GenesAKR1C1, AKR1C2, AKR1C3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486780
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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