A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426003



Internal ID204949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99364220..99368532hg38UCSC Ensembl
chr1:99829776..99834088hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg384313
hg194313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907035
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426003
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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