A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255871



Internal ID22293309
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249340
Supporting Variants
SamplesNA19240
Known GenesSCN8A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255871
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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