A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739721



Internal ID163387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24062384..24062435hg38UCSC Ensembl
chrX:24080501..24080552hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562436
Supporting Variants
Samples
Known GenesEIF2S3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739721
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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