A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429976



Internal ID208804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:85628403..85628454hg38UCSC Ensembl
chr15:86171634..86171685hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702279
Samples
Known GenesAKAP13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429976
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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