A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537480



Internal ID312741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46487737..46487737hg38UCSC Ensembl
chrX:46347172..46347172hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736752
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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