A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221921



Internal ID22366152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63985330..63993301hg38UCSC Ensembl
chr14:64452048..64460019hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg387972
hg197972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14370301
SamplesHG00733
Known GenesMIR548AZ, SYNE2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221921
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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