A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231890



Internal ID22372362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:95403652..95426647hg38UCSC Ensembl
Outerchr14:95869989..95892984hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257893, nssv14257280, nssv14257892, nssv14257279, nssv14257278, nssv14257277, nssv14257894, nssv14257895, nssv14257281
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00341, SYNE3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231890
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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