A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16940551



Internal ID27751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150659919..150659970hg38UCSC Ensembl
chr3:150377706..150377757hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401524
Supporting Variants
Samples
Known GenesFAM194A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16940551
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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