A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728706



Internal ID152372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35407945..35407996hg38UCSC Ensembl
chr22:35803938..35803989hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433114
Supporting Variants
Samples
Known GenesMCM5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728706
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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