A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1312n140



Internal ID22812249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154125794..154126118hg38UCSC Ensembl
chr6:154446929..154447253hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3054659, nsv3058080
SamplesCHM1, NA12878
Known GenesOPRM1
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)dgv1312n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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