A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221406



Internal ID22365806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155879495..155940356hg38UCSC Ensembl
Outerchr7:155672189..155733050hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg383813
hg193813
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278673, nssv14278674, nssv14278677, nssv14278672, nssv14278679, nssv14278675, nssv14278671, nssv14278676, nssv14278678
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221406
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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