A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3055523



Internal ID21187454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55331895..55331895hg38UCSC Ensembl
chr14:55798613..55798613hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14028185
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)nsv3055523
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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