A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420130



Internal ID199241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:83021459..83026767hg38UCSC Ensembl
chrX:82276467..82281775hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg385309
hg195309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737057
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420130
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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