A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247144



Internal ID22376631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:26882604..26939649hg38UCSC Ensembl
Outerchr10:27171533..27228578hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg388154
hg198154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282272, nssv14282276, nssv14282278, nssv14282274, nssv14282275, nssv14282273, nssv14282271, nssv14282277, nssv14282279
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00202-1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247144
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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