A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524582



Internal ID300784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:80715081..80715409hg38UCSC Ensembl
chr15:81007422..81007750hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704462
Samples
Known GenesABHD17C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524582
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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