A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14018653



Internal ID21170113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130193810..130193810hg38UCSC Ensembl
chr11:130063705..130063705hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3052389
Supporting Variants
SamplesNA12878
Known GenesST14
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)nssv14018653
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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