A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401673



Internal ID181049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69852931..69852982hg38UCSC Ensembl
chr4:70718649..70718700hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735113
Samples
Known GenesSULT1E1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401673
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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