A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742045



Internal ID165711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:112996794..112996845hg38UCSC Ensembl
chrX:112240022..112240073hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554430
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742045
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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