A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243405



Internal ID22375567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124466365..124513120hg38UCSC Ensembl
Outerchr10:126154934..126201689hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg382464
hg192464
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253751, nssv14253753, nssv14253752, nssv14253750
SamplesNA19239, HG00732, HG00733, HG00513
Known GenesLHPP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243405
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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