A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204039



Internal ID22352953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69063099..69139206hg38UCSC Ensembl
Outerchr4:69928817..70004924hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3876108
hg1976108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274500
SamplesNA19240
Known GenesUGT2B7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204039
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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