A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv467n140



Internal ID22811404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103131984..103132047hg38UCSC Ensembl
chr14:103598321..103598384hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3061929, nsv3051241
SamplesCHM1, NA12878
Known GenesTNFAIP2
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)dgv467n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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