A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210087



Internal ID22358062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173457742..173470526hg38UCSC Ensembl
Outerchr5:172884745..172897529hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3812785
hg1912785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7621n152
Supporting Variantsnssv14274718
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210087
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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