A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420183



Internal ID22478053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197475789..197675956hg38UCSC Ensembl
chr3:197202660..197402827hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38200168
hg19200168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890309
Supporting Variants
Samples
Known GenesBDH1, KIAA0226, LOC220729, MIR922
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420183
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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