A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14019382



Internal ID21156250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118948004..118948004hg38UCSC Ensembl
chr11:118818714..118818714hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3061157
Supporting Variants
SamplesCHM1
Known Genes
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)nssv14019382
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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