A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048566



Internal ID100252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76658550..76658601hg38UCSC Ensembl
chr11:76369594..76369645hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402370
Supporting Variants
Samples
Known GenesLRRC32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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