A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003255



Internal ID69790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133940538..134524796hg38UCSC Ensembl
chr7:133625291..134209548hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38584259
hg19584258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476422
Supporting Variants
Samples
Known GenesAKR1B1, EXOC4, LRGUK, SLC35B4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003255
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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