A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207172



Internal ID22355604
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270243, nssv14270245, nssv14270247, nssv14270244, nssv14270246
SamplesHG00512, NA19238, NA19239, HG00731, NA19240
Known GenesCOL6A6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207172
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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