A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557369



Internal ID330468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15401360..15401360hg38UCSC Ensembl
chrX:15419482..15419482hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739395
Samples
Known GenesPIR, PIR-FIGF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557369
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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