A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196294



Internal ID22346333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60634452..60672499hg38UCSC Ensembl
Outerchr5:59930279..59968326hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3838048
hg1938048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274916, nssv14274914, nssv14274913, nssv14274915
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesDEPDC1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196294
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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