A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231293



Internal ID22372193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:35666694..35693346hg38UCSC Ensembl
Outerchr10:35955622..35982274hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg382065
hg192065
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289618, nssv14289614, nssv14289615, nssv14289617, nssv14289616, nssv14289619, nssv14289612, nssv14289611, nssv14289613
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231293
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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