A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891113



Internal ID168256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149812000..149820587hg38UCSC Ensembl
chr1:149783555..149792142hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg388588
hg198588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426258
Supporting Variants
Samples
Known GenesHIST2H2BF, HIST2H3D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891113
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000157


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