A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211071



Internal ID22358751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:40282704..40310410hg38UCSC Ensembl
Outerchr4:40284324..40312427hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg383403
hg193403
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273529, nssv14273524, nssv14273526, nssv14273531, nssv14273525, nssv14273528, nssv14273527, nssv14273532, nssv14273530
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211071
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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