A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229898



Internal ID22371596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6186002..6215131hg38UCSC Ensembl
Outerchr10:6227965..6257094hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3829130
hg1929130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277534, nssv14277533, nssv14277532, nssv14277531, nssv14277530
SamplesHG00512, NA19239, HG00732, HG00733, HG00513
Known GenesPFKFB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229898
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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