A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046752



Internal ID21178798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111221215..111221320hg38UCSC Ensembl
chr13:111873562..111873667hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14020876
SamplesNA12878
Known GenesARHGEF7
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)nsv3046752
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