A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890270



Internal ID167675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151264587..151344587hg38UCSC Ensembl
chr1:151237063..151317063hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3880001
hg1980001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138481
Supporting Variants
Samples
Known GenesPI4KB, PSMD4, RFX5, ZNF687
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890270
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00079


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