A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17446066



Internal ID22503936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3362416..3362416hg38UCSC Ensembl
chr6:3362650..3362650hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952576
Supporting Variants
Samples
Known GenesSLC22A23
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17446066
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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