A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690504



Internal ID114170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104156533..104412768hg38UCSC Ensembl
chr12:104550311..104806546hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38256236
hg19256236
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499549
Supporting Variants
Samples
Known GenesEID3, TXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690504
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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