A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16280593



Internal ID20489811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2129423..2129423hg38UCSC Ensembl
chr3:2171107..2171107hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4753775
Supporting Variants
Samples
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16280593
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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