A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054239



Internal ID21186219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118422035..118422035hg38UCSC Ensembl
chr11:118292750..118292750hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381349
hg191349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029723
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)nsv3054239
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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