A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939220



Internal ID26863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130347746..130347847hg38UCSC Ensembl
chr3:130066589..130066690hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557257
Supporting Variants
Samples
Known GenesCOL6A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939220
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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