A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441264



Internal ID219744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224473802..224474599hg38UCSC Ensembl
chr1:224661504..224662301hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38798
hg19798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897229
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441264
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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