A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216408



Internal ID22362410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:32464967..32492077hg38UCSC Ensembl
Outerchr14:32934173..32961283hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3827111
hg1927111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257143, nssv14257144, nssv14257146, nssv14257147, nssv14257142, nssv14257150, nssv14257148, nssv14257145, nssv14257149
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesAKAP6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216408
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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