A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203306



Internal ID22352344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3141307..3147860hg38UCSC Ensembl
Outerchr6:3141541..3148094hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg386554
hg196554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276392, nssv14276391, nssv14276390
SamplesNA19238, HG00732, NA19240
Known GenesBPHL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203306
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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