A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250109



Internal ID22377449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:63770580..63826436hg38UCSC Ensembl
Outerchr10:65530340..65586196hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252748, nssv14253397, nssv14252749, nssv14252750, nssv14252747
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250109
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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