A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028783



Internal ID86894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127540058..127540071hg38UCSC Ensembl
chr9:130302337..130302350hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411100
Supporting Variants
Samples
Known GenesFAM129B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028783
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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