A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742233



Internal ID165899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:125192456..125192456hg38UCSC Ensembl
chrX:124326305..124326305hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559791
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742233
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000249626


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