A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241899



Internal ID22336469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:25345799..25357769hg38UCSC Ensembl
Outerchr12:25498733..25510703hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381137
hg191137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1769n152
Supporting Variantsnssv14255324, nssv14255318, nssv14255320, nssv14255321, nssv14255325, nssv14255322, nssv14255319, nssv14255323
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241899
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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