A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1204n140



Internal ID22812141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149809147..149809252hg38UCSC Ensembl
chr5:149188710..149188815hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3063504, nsv3055809
SamplesCHM1, NA12878
Known GenesPPARGC1B
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)dgv1204n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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