A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527918



Internal ID22397304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49820974..49821495hg38UCSC Ensembl
chr14:50287692..50288213hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2619n152
Supporting Variantsnssv14371479, nssv14371481, nssv14371483, nssv14371477, nssv14371480, nssv14371485, nssv14371482, nssv14371484, nssv14371478
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNEMF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527918
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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