A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3059190



Internal ID21190928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10685914..10685914hg38UCSC Ensembl
chr2:10826040..10826040hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14019830
SamplesNA12878
Known GenesNOL10
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)nsv3059190
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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