A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054274



Internal ID21186254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3204215..3204215hg38UCSC Ensembl
chr11:3225445..3225445hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14027435
SamplesNA12878
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)nsv3054274
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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