A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889990



Internal ID167446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121087835..121093900hg38UCSC Ensembl
chr1:149754740..149760824hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg386066
hg196085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426141
Supporting Variants
Samples
Known GenesFCGR1A, HIST2H2BF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889990
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002342


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