A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054773



Internal ID21186736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75763437..75763437hg38UCSC Ensembl
chr11:75474482..75474482hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14022610
SamplesNA12878
Known GenesLOC283214
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)nsv3054773
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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