A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474023



Internal ID251695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129991691..129995001hg38UCSC Ensembl
chr8:131003937..131007247hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383311
hg193311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017205
Samples
Known GenesFAM49B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474023
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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