A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256324



Internal ID22144772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:50578741..50584787hg38UCSC Ensembl
Outerchr12:50972524..50978570hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg386047
hg196047
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225567
Supporting Variants
SamplesHG00514
Known GenesDIP2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256324
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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