A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979369



Internal ID53617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26108000..26128000hg38UCSC Ensembl
chr6:26108228..26128228hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3820001
hg1920001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458260
Supporting Variants
Samples
Known GenesHIST1H1T, HIST1H2AC, HIST1H2BC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979369
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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