A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218023



Internal ID22363511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:153108140..153112982hg38UCSC Ensembl
Outerchr6:153429275..153434117hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279413, nssv14279411, nssv14279414, nssv14279412
SamplesHG00512, HG00731, HG00513, HG00514
Known GenesRGS17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218023
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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