A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv875n140



Internal ID22811812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19959800..19959885hg38UCSC Ensembl
chr22:19947323..19947408hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3059979, nsv3063277
SamplesCHM1, NA12878
Known GenesCOMT
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)dgv875n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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