A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555605



Internal ID328759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:80229567..80229618hg38UCSC Ensembl
chrX:79485066..79485117hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740991
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555605
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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