A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17738094



Internal ID161760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153873377..153873595hg38UCSC Ensembl
chrX:153138832..153139050hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414348
Supporting Variants
Samples
Known GenesL1CAM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17738094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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