A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208452



Internal ID22356693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:148535145..148573511hg38UCSC Ensembl
Outerchr3:148252932..148291298hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3838367
hg1938367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270850, nssv14270846, nssv14270851, nssv14270849, nssv14270847, nssv14270844, nssv14270845, nssv14270852, nssv14270848
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)nsv3208452
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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