A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418999



Internal ID198148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:39819119..39819201hg38UCSC Ensembl
chrX:39678373..39678455hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736481
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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