A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054260



Internal ID21186240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:15998448..15998448hg38UCSC Ensembl
chr11:16019994..16019994hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033305
SamplesNA12878
Known GenesSOX6
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)nsv3054260
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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