A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224222



Internal ID22367716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:29244573..29281536hg38UCSC Ensembl
Outerchr14:29713779..29750742hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3836964
hg1936964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257132, nssv14257133, nssv14257137, nssv14257138, nssv14257135, nssv14257136, nssv14257134
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224222
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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