A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216914



Internal ID22362753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53881587..53889193hg38UCSC Ensembl
chr14:54348305..54355911hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg387607
hg197607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371842
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216914
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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