A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270246



Internal ID22272472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:130626534..130646354hg38UCSC Ensembl
Outerchr3:130345378..130365198hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3819821
hg1919821
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207172
Supporting Variants
SamplesNA19239
Known GenesCOL6A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270246
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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