A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1079n140



Internal ID22812016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169229916..169230067hg38UCSC Ensembl
chr4:170151067..170151218hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3065373, nsv3049391
SamplesCHM1, NA12878
Known GenesSH3RF1
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)dgv1079n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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