A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208451



Internal ID22356692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48477236..48522528hg38UCSC Ensembl
Outerchr3:48518645..48559961hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3845293
hg1941317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271662, nssv14271661
SamplesNA19239, NA19240
Known GenesPFKFB4, SHISA5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208451
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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