A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249670



Internal ID22377342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:36118350..36152480hg38UCSC Ensembl
Outerchr10:36407278..36441408hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg381527
hg191527
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253232, nssv14253231
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249670
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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