A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218122



Internal ID22363575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101917751..101919350hg38UCSC Ensembl
chr14:102384088..102385687hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374854, nssv14375792, nssv14392052, nssv14378446, nssv14378329, nssv14385329, nssv14379074, nssv14392098, nssv14386005
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPPP2R5C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218122
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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