A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891108



Internal ID168252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149784587..149802587hg38UCSC Ensembl
chr1:149756143..149774143hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3818001
hg1918001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431757
Supporting Variants
Samples
Known GenesFCGR1A, HIST2H2BF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891108
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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