A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729934



Internal ID153600
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 StatusS
Merged Variantsnsv5548917
Supporting Variants
Samples
Known GenesDENND6B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729934
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.119313


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