A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3064646



Internal ID21196126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55331831..55331831hg38UCSC Ensembl
chr14:55798549..55798549hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14034590
SamplesNA12878
Known GenesFBXO34
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3064646
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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