A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225567



Internal ID22368659
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256324
SamplesHG00514
Known GenesDIP2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225567
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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