A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053738



Internal ID21185739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24109029..24109029hg38UCSC Ensembl
chr16:24120350..24120350hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14025661
SamplesNA12878
Known GenesPRKCB
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)nsv3053738
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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