A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239863



Internal ID22374553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1153077..1244994hg38UCSC Ensembl
Outerchr10:1199017..1287046hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg382512
hg192512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253818, nssv14253819, nssv14253820
SamplesHG00512, HG00513, HG00514
Known GenesADARB2, LINC00200
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239863
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