A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207532



Internal ID22355907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:151382997..151416772hg38UCSC Ensembl
Outerchr5:150762558..150796333hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3833776
hg1933776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272707, nssv14272708, nssv14272709, nssv14272706, nssv14272710
SamplesHG00512, NA19238, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207532
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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