A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967392



Internal ID22742327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29761310..29763330hg38UCSC Ensembl
chr22:30157299..30159319hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382021
hg192021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409144
Samples
Known GenesZMAT5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967392
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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