A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046430



Internal ID21178476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13925071..13925071hg38UCSC Ensembl
chr6:13925302..13925302hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14031996
SamplesNA12878
Known GenesRNF182
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)nsv3046430
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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