A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411718



Internal ID191024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75576982..75577033hg38UCSC Ensembl
chr1:76042667..76042718hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907404
Samples
Known GenesSLC44A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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