A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721507



Internal ID145173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12462167..12462218hg38UCSC Ensembl
chr19:12572981..12573032hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420603
Supporting Variants
Samples
Known GenesZNF709
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721507
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002498


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