A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3060299



Internal ID21191976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68415626..68415936hg38UCSC Ensembl
chr11:68183094..68183404hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026857
SamplesCHM1
Known GenesLRP5
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)nsv3060299
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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