A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843317



Internal ID22026960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120261974..120261974hg38UCSC Ensembl
chr11:120132683..120132683hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258400
Supporting Variants
Samples
Known GenesLOC649133, POU2F3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843317
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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