A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427253



Internal ID206159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:123656041..123656726hg38UCSC Ensembl
chrX:122789892..122790577hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737487
Samples
Known GenesTHOC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427253
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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