A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424141



Internal ID203141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154713957..154714482hg38UCSC Ensembl
chr1:154686433..154686958hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890397
Samples
Known GenesKCNN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424141
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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