A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056623



Internal ID21188507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33880283..33880283hg38UCSC Ensembl
chr11:33901829..33901829hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021772
SamplesNA12878
Known GenesLMO2
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)nsv3056623
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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