A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475413



Internal ID253049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8980015..8980262hg38UCSC Ensembl
chr8:8837525..8837772hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006739
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475413
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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