A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1205n140



Internal ID22812142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150084346..150084468hg38UCSC Ensembl
chr5:149463909..149464031hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3051340, nsv3065430
SamplesCHM1, NA12878
Known GenesCSF1R
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)dgv1205n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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