A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054780



Internal ID21186743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124905135..124908403hg38UCSC Ensembl
chr11:124775031..124778299hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg383269
hg193269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14033030
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)nsv3054780
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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