A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556382



Internal ID329521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12311738..12311789hg38UCSC Ensembl
chrX:12329857..12329908hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739281
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556382
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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