A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414731



Internal ID193999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159272903..159273803hg38UCSC Ensembl
chr1:159242693..159243593hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891043
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414731
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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