A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16931117



Internal ID21494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:15190771..15193831hg38UCSC Ensembl
chr3:15232278..15235338hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg383061
hg193061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452936
Supporting Variants
Samples
Known GenesCOL6A4P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16931117
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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