A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207153



Internal ID22355586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:68582898..68613553hg38UCSC Ensembl
Outerchr3:68632049..68662704hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3830656
hg1930656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270988, nssv14270987, nssv14270986, nssv14270990, nssv14270989
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)nsv3207153
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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