A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3052912



Internal ID21184946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78879351..78879351hg38UCSC Ensembl
chr11:78590396..78590396hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020693
SamplesNA12878
Known GenesTENM4
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)nsv3052912
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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