A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427208



Internal ID206116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32776174..32778769hg38UCSC Ensembl
chr1:33241775..33244370hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg382596
hg192596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903658
Samples
Known GenesYARS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427208
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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