A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421829



Internal ID200891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149801800..149822587hg38UCSC Ensembl
chr1:149773356..149794142hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3820788
hg1920787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891112
Samples
Known GenesHIST2H2BF, HIST2H3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421829
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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