A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741177



Internal ID164843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:85346122..85346173hg38UCSC Ensembl
chrX:84601128..84601179hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560221
Supporting Variants
Samples
Known GenesPOF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741177
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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