A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247767



Internal ID22376793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17459089..17478422hg38UCSC Ensembl
Outerchr17:17362403..17381736hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381360
hg191360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260553, nssv14260554, nssv14260552
SamplesNA19238, NA19240, HG00513
Known GenesMED9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247767
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