A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421799



Internal ID200862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48962858..48964282hg38UCSC Ensembl
chrX:48820119..48821543hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381425
hg191425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736885
Samples
Known GenesKCND1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421799
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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