A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249340



Internal ID22377247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51690314..51719856hg38UCSC Ensembl
Outerchr12:52084098..52113640hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255871, nssv14255870
SamplesNA19238, NA19240
Known GenesSCN8A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249340
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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