A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890164



Internal ID167588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149563396..149590587hg38UCSC Ensembl
chr1:148785669..148812648hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3827192
hg1926980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138538
Supporting Variants
Samples
Known GenesLOC101929780, PPIAL4D, PPIAL4E, PPIAL4F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890164
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.016486


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