A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417470



Internal ID196666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154523195..154523758hg38UCSC Ensembl
chrX:153751414..153751977hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38564
hg19564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17738128
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417470
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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