A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981663



Internal ID55129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43193980..43194031hg38UCSC Ensembl
chr6:43161718..43161769hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412805
Supporting Variants
Samples
Known GenesCUL9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981663
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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