A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217225



Internal ID22362953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61280110..61290184hg38UCSC Ensembl
Outerchr5:60575937..60586011hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382760
hg192760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276173, nssv14276167, nssv14276171, nssv14276174, nssv14276175, nssv14276168, nssv14276169, nssv14276170, nssv14276172
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)nsv3217225
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer