A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243094



Internal ID22375466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77611770..77647665hg38UCSC Ensembl
Outerchr17:75607852..75643747hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382245
hg192245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3660n152
Supporting Variantsnssv14261236
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243094
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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