A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047319



Internal ID99389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46100454..46100505hg38UCSC Ensembl
chr11:46122005..46122056hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396935
Supporting Variants
Samples
Known GenesPHF21A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047319
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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