A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227949



Internal ID22370284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6189072..6235308hg38UCSC Ensembl
Outerchr10:6231035..6277271hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3846237
hg1946237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277487
SamplesNA19239
Known GenesPFKFB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227949
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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