A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452868



Internal ID231011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220424604..220447034hg38UCSC Ensembl
chr1:220597946..220620376hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3822431
hg1922431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896310
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452868
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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