A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248170



Internal ID22376903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78941305..78952046hg38UCSC Ensembl
Outerchr12:79335085..79345826hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383708
hg193708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256019, nssv14256020, nssv14256023, nssv14256022, nssv14256021
SamplesHG00512, HG00732, HG00733, HG00513, HG00514
Known GenesSYT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248170
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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