A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977143



Internal ID22752078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46502461..46502461hg38UCSC Ensembl
chr22:46898358..46898358hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404252
Samples
Known GenesCELSR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977143
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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