A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684039



Internal ID107705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89430146..89430146hg38UCSC Ensembl
chr12:89823923..89823923hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423796
Supporting Variants
Samples
Known GenesPOC1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684039
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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