A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476650



Internal ID254255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126618381..126621968hg38UCSC Ensembl
chr8:127630626..127634213hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383588
hg193588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018035
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476650
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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