A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423100



Internal ID202126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149842587..149850587hg38UCSC Ensembl
chr1:149814154..149822154hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891118
Samples
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423100
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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