A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557860



Internal ID330942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100950576..100950627hg38UCSC Ensembl
chrX:100205565..100205616hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741701
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557860
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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