A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239816



Internal ID22374541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43010480..43033205hg38UCSC Ensembl
Outerchr17:41162497..41185222hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381282
hg191282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261588, nssv14261585, nssv14261592, nssv14261587, nssv14261590, nssv14261591, nssv14261589, nssv14261586
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesIFI35, RND2, VAT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239816
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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