A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979130



Internal ID53467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14511100..14511151hg38UCSC Ensembl
chr6:14511331..14511382hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410288
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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