A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14026227



Internal ID21175176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1405072..1405072hg38UCSC Ensembl
chr11:1426302..1426302hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3052395
Supporting Variants
SamplesNA12878
Known GenesBRSK2
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)nssv14026227
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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