A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548917



Internal ID322628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50319517..50319524hg38UCSC Ensembl
chr22:50757946..50757953hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729934
Samples
Known GenesDENND6B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548917
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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