A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249638



Internal ID22377332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14753860..14775498hg38UCSC Ensembl
Outerchr19:14864672..14886310hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381783
hg191783
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263120, nssv14263116, nssv14263118, nssv14263122, nssv14263124, nssv14263123, nssv14263117, nssv14263121, nssv14263119
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEMR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249638
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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