A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229856



Internal ID22371565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180295541..180333705hg38UCSC Ensembl
Outerchr5:179722541..179760705hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382003
hg192003
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274664, nssv14274665, nssv14274661, nssv14274662, nssv14274663
SamplesHG00512, NA19238, HG00732, HG00733, HG00514
Known GenesGFPT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229856
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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