A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218623



Internal ID22363910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177585332..177598980hg38UCSC Ensembl
Outerchr5:177012333..177025981hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388164
hg198164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7648n152
Supporting Variantsnssv14277601, nssv14277600, nssv14277602
SamplesNA19238, HG00731, NA19240
Known GenesTMED9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218623
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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