A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207329



Internal ID22355735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:151318077..151338836hg38UCSC Ensembl
Outerchr4:152239229..152259988hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3820760
hg1920760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273067, nssv14273065, nssv14273064, nssv14273066, nssv14273063
SamplesHG00512, NA19238, HG00731, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207329
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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