A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17538441



Internal ID21862796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130242729..130379710hg38UCSC Ensembl
chr3:129961572..130098553hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38136982
hg19136982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5991362
Supporting Variants
Samples
Known GenesCOL6A4P2, COL6A5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17538441
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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