A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14019042



Internal ID21170378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113262928..113262928hg38UCSC Ensembl
chr13:113917242..113917242hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38663
hg19663
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3053048
Supporting Variants
SamplesNA12878
Known GenesCUL4A, MIR8075
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)nssv14019042
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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