A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208020



Internal ID22356324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127170718..127195777hg38UCSC Ensembl
Outerchr2:127928294..127953353hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3825060
hg1925060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264690
SamplesHG00513
Known GenesCYP27C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208020
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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