A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847209



Internal ID22030852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50072961..50072961hg38UCSC Ensembl
chr16:50106872..50106872hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250261
Supporting Variants
Samples
Known GenesHEATR3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847209
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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