A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693580



Internal ID117246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32081269..32081281hg38UCSC Ensembl
chr14:32550475..32550487hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555698
Supporting Variants
Samples
Known GenesARHGAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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