A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417994



Internal ID197176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:117768105..117771593hg38UCSC Ensembl
chrX:116902068..116905556hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg383489
hg193489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737243
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417994
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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