A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416678



Internal ID195900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38526532..38526583hg38UCSC Ensembl
chr22:38922537..38922588hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728938
Samples
Known GenesDMC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416678
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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