A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211539



Internal ID22359067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132687748..132695953hg38UCSC Ensembl
Outerchr12:133264334..133272539hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg388206
hg198206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254821, nssv14254822
SamplesNA19239, HG00731
Known GenesPXMP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211539
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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