A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473677



Internal ID251362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119401076..119402725hg38UCSC Ensembl
chr5:118736771..118738420hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973862
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473677
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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