A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254821



Internal ID22187759
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211539
Supporting Variants
SamplesHG00731
Known GenesPXMP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254821
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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