A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232364



Internal ID22372481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:14565193..14576308hg38UCSC Ensembl
Outerchr10:14607192..14618307hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282831, nssv14282832, nssv14282833, nssv14282830
SamplesHG00512, NA19238, HG00732, HG00513
Known GenesFAM107B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232364
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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