A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236343



Internal ID22373552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:99533822..99588467hg38UCSC Ensembl
Outerchr10:101293579..101348224hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38882
hg19882
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252723, nssv14252721, nssv14252719, nssv14252718, nssv14252720, nssv14252722
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240
Known GenesNKX2-3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236343
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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