A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954728



Internal ID22729963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19487271..19487508hg38UCSC Ensembl
chr22:19474794..19475031hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401614
Samples
Known GenesCDC45
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954728
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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