A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554629



Internal ID327808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:11026532..11026583hg38UCSC Ensembl
chrX:11044652..11044703hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739241
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554629
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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