A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893575



Internal ID169874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175974849..175974849hg38UCSC Ensembl
chr1:175943985..175943985hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg389251
hg199251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553421
Supporting Variants
Samples
Known GenesRFWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893575
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001406


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