A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948471



Internal ID22723950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29193499..29194980hg38UCSC Ensembl
chr22:29589487..29590968hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403513
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948471
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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