A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684828



Internal ID108494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118999700..118999751hg38UCSC Ensembl
chr12:119437505..119437556hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425608
Supporting Variants
Samples
Known GenesSRRM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684828
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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