A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892841



Internal ID22667897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130339933..130353380hg38UCSC Ensembl
chr3:130058776..130072223hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3813448
hg1913448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401687
Samples
Known GenesCOL6A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892841
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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