A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216444



Internal ID22362435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3770060..3781756hg38UCSC Ensembl
Outerchr6:3770294..3781990hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38818
hg19818
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275407, nssv14275405, nssv14275408, nssv14275403, nssv14275404, nssv14275409, nssv14275406
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216444
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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