A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422232



Internal ID201280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63982825..63982876hg38UCSC Ensembl
chr15:64275024..64275075hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702890
Samples
Known GenesDAPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer