A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962311



Internal ID22737246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43273626..43390067hg38UCSC Ensembl
chr22:43669632..43786073hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38116442
hg19116442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390992
Samples
Known GenesSCUBE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962311
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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