A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483649



Internal ID22541556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43545666..43551865hg38UCSC Ensembl
chr22:43941546..43947745hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878773
Supporting Variants
Samples
Known GenesEFCAB6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483649
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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