A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13689598



Internal ID21211451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130628724..130634265hg38UCSC Ensembl
chr3:130347568..130353109hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385542
hg195542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2808413
Supporting Variants
Samples
Known GenesCOL6A6
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13689598
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.421875


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