A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224303



Internal ID22367776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:183994271..184001066hg38UCSC Ensembl
Outerchr1:183963405..183970200hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg383470
hg193470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264682, nssv14264681, nssv14264684, nssv14264683, nssv14264680, nssv14264685
SamplesHG00512, NA19238, NA19239, HG00732, HG00513, HG00514
Known GenesCOLGALT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224303
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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