A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558676



Internal ID331733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134545936..134545987hg38UCSC Ensembl
chrX:133679966..133680017hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742437
Samples
Known GenesMIR503HG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558676
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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