A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558266



Internal ID331336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157424220..157424271hg38UCSC Ensembl
chr6:157845252..157845303hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989842
Samples
Known GenesZDHHC14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558266
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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