A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256012



Internal ID22144718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:50602105..50610739hg38UCSC Ensembl
Outerchr12:50995888..51004522hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240221
Supporting Variants
SamplesHG00514
Known GenesDIP2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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