A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221914



Internal ID22366147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157825684..157843790hg38UCSC Ensembl
Outerchr6:158246716..158264822hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279424, nssv14279422, nssv14279423
SamplesHG00512, HG00731, HG00732
Known GenesSNX9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221914
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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