A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422747



Internal ID201783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:23989575..23989668hg38UCSC Ensembl
chrX:24007692..24007785hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739711
Samples
Known GenesKLHL15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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