A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17739281



Internal ID162947
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 StatusS
Merged Variantsnsv5556382
Supporting Variants
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17739281
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003278


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