A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976109



Internal ID51474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139373699..139373736hg38UCSC Ensembl
chr5:138709388..138709425hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550713
Supporting Variants
Samples
Known GenesSLC23A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976109
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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