A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908217



Internal ID6274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85747835..85753835hg38UCSC Ensembl
chr1:86213518..86219518hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138071
Supporting Variants
Samples
Known GenesCOL24A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908217
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004018


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