A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060217



Internal ID21191907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24336643..24336643hg38UCSC Ensembl
chr16:24347964..24347964hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033161
SamplesCHM1
Known GenesCACNG3
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)nsv3060217
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