A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967207



Internal ID22742142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38645141..38648356hg38UCSC Ensembl
chr22:39041146..39044361hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg383216
hg193216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390964
Samples
Known GenesFAM227A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967207
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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