A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424596



Internal ID203582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155902021..156003787hg38UCSC Ensembl
chrX:155131685..155233452hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38101767
hg19101768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17738261
Samples
Known GenesIL9R, VAMP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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