A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424363



Internal ID203356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46913092..46913233hg38UCSC Ensembl
chrX:46772527..46772668hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736768
Samples
Known GenesJADE3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424363
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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