A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046422



Internal ID98748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70277053..70277088hg38UCSC Ensembl
chr11:70123159..70123194hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539504
Supporting Variants
Samples
Known GenesPPFIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046422
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001718


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