A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892849



Internal ID169404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183994238..183994535hg38UCSC Ensembl
chr1:183963372..183963669hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139311
Supporting Variants
Samples
Known GenesCOLGALT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892849
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005313


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