A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239180



Internal ID22374355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:129734721..129747367hg38UCSC Ensembl
Outerchr8:130746967..130759613hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg388900
hg198900
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280491, nssv14280494, nssv14280490, nssv14280487, nssv14280486, nssv14280493, nssv14280492, nssv14280488, nssv14280489
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239180
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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