A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14024101



Internal ID21173738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120082905..120083601hg38UCSC Ensembl
chr11:119953614..119954310hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3054767
Supporting Variants
SamplesNA12878
Known Genes
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)nssv14024101
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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