A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051125



Internal ID21183176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125011868..125011868hg38UCSC Ensembl
chr8:126024110..126024110hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14025761
SamplesNA12878
Known GenesSQLE
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)nsv3051125
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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