A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053734



Internal ID21185735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19489001..19489001hg38UCSC Ensembl
chr16:19500323..19500323hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14018550
SamplesNA12878
Known GenesTMC5
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)nsv3053734
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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