A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046346



Internal ID21178392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179849559..179849559hg38UCSC Ensembl
chr5:179276559..179276559hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14025301
SamplesNA12878
Known GenesC5orf45
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)nsv3046346
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