A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428659



Internal ID207521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:149748700..149917606hg38UCSC Ensembl
chrX:148830361..149085824hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38168907
hg19255464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737921
Samples
Known GenesHSFX1, HSFX2, MAGEA8, MAGEA8-AS1, MAGEA9, MAGEA9B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428659
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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