A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414182



Internal ID193467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:2444954..2448920hg38UCSC Ensembl
chrX:2362995..2366961hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg383967
hg193967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739004
Samples
Known GenesDHRSX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414182
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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