A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429633



Internal ID208474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130467965..130489561hg38UCSC Ensembl
chrX:129601939..129623535hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3821597
hg1921597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737578
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429633
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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