A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449459



Internal ID22507329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3366253..3366326hg38UCSC Ensembl
chr6:3366487..3366560hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901351
Supporting Variants
Samples
Known GenesSLC22A23
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449459
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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