A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553321



Internal ID326579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47011831..47011831hg38UCSC Ensembl
chrX:46871233..46871233hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736773
Samples
Known GenesJADE3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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