A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236763



Internal ID22373685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:70550522..70555217hg38UCSC Ensembl
Outerchr10:72310278..72314973hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252632, nssv14252633
SamplesNA19238, NA19239
Known GenesPALD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236763
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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