A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961207



Internal ID22736165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48550924..48550995hg38UCSC Ensembl
chr22:48946736..48946807hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398215
Samples
Known GenesFAM19A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961207
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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