A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3063045



Internal ID21194575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55078383..55078621hg38UCSC Ensembl
chr19:55589751..55589989hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14036581
SamplesNA12878
Known GenesEPS8L1
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)nsv3063045
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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