A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212462



Internal ID22359705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:27719943..27797230hg38UCSC Ensembl
Outerchr7:27759562..27836849hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381574
hg191574
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278486, nssv14278488, nssv14278484, nssv14278485, nssv14278483, nssv14278489, nssv14278487
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTAX1BP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212462
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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