A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423121



Internal ID202146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130964800..131003381hg38UCSC Ensembl
chrX:130098774..130137355hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3838582
hg1938582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737596
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423121
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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