A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14027237



Internal ID21155188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19959800..19959867hg38UCSC Ensembl
chr22:19947323..19947390hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3059979
Supporting Variants
SamplesCHM1
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)nssv14027237
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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