A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400539



Internal ID22458409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182984423..182984565hg38UCSC Ensembl
chr2:183849151..183849293hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5897633
Supporting Variants
Samples
Known GenesNCKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400539
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01


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