A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17401687



Internal ID22459557
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 StatusS
Merged Variantsnsv5892841
Supporting Variants
Samples
Known GenesCOL6A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17401687
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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