A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525144



Internal ID301318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67934595..68008992hg38UCSC Ensembl
chr16:67968498..68042895hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3874398
hg1974398
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707538
Samples
Known GenesDPEP2, DPEP3, LCAT, PSMB10, SLC12A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525144
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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