A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890068



Internal ID167520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145522000..145550587hg38UCSC Ensembl
chr1:85980531..86005697hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3828588
hg1925167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425271
Supporting Variants
Samples
Known GenesDDAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890068
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007185


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