A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6069033



Internal ID21978266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130669719..130669719hg38UCSC Ensembl
chr3:130388563..130388563hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17542287
Samples
Known GenesCOL6A6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6069033
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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