A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3065853



Internal ID21197283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36507573..36507573hg38UCSC Ensembl
chr11:36529123..36529123hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14037380
SamplesCHM1
Known GenesTRAF6
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)nsv3065853
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