A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474998



Internal ID252646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1447570..1469121hg38UCSC Ensembl
chr8:1395736..1417287hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3821552
hg1921552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008049
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474998
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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