A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989335



Internal ID60312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151284897..151284948hg38UCSC Ensembl
chr6:151606032..151606083hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398354
Supporting Variants
Samples
Known GenesAKAP12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989335
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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