A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14029160



Internal ID21162049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55155451..55155524hg38UCSC Ensembl
chr19:55666819..55666892hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3048570
Supporting Variants
SamplesNA12878
Known GenesTNNI3
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)nssv14029160
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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