A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424946



Internal ID203920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130726719..130736711hg38UCSC Ensembl
chrX:129860693..129870685hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg389993
hg199993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737589
Samples
Known GenesENOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424946
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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