A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054371



Internal ID21186350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13494662..13494662hg38UCSC Ensembl
chr18:13494661..13494661hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14023563
SamplesNA12878
Known GenesLDLRAD4
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)nsv3054371
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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