A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414539



Internal ID193818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52712764..52721895hg38UCSC Ensembl
chr1:53178436..53187567hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg389132
hg199132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903201
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414539
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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