A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056608



Internal ID21188492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14841725..14841725hg38UCSC Ensembl
chr11:14863271..14863271hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381061
hg191061
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018344
SamplesNA12878
Known GenesPDE3B
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)nsv3056608
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer