A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949621



Internal ID22725067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17515737..17516005hg38UCSC Ensembl
chr22:17994766..17995034hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401164
Samples
Known GenesCECR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949621
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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