A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16982353



Internal ID55583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26024000..26230000hg38UCSC Ensembl
chr6:26024228..26230228hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38206001
hg19206001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141014
Supporting Variants
Samples
Known GenesHFE, HIST1H1C, HIST1H1E, HIST1H1T, HIST1H2AB, HIST1H2AC, HIST1H2AD, HIST1H2AE, HIST1H2BB, HIST1H2BC, HIST1H2BD, HIST1H2BE, HIST1H2BF, HIST1H2BG, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H4B, HIST1H4C, HIST1H4D, HIST1H4E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16982353
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000157


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer