A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890274



Internal ID167679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151318440..151321643hg38UCSC Ensembl
chr1:151290916..151294119hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg383204
hg193204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425467
Supporting Variants
Samples
Known GenesPI4KB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890274
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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