A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419664



Internal ID198793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119922978..119930995hg38UCSC Ensembl
chrX:119056941..119064958hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg388018
hg198018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737353
Samples
Known GenesNKAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419664
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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