A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418679



Internal ID197841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30483488..30561488hg38UCSC Ensembl
chrX:30501605..30579605hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3878001
hg1978001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736404
Samples
Known GenesCXorf21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418679
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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