A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3053921



Internal ID21185905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112577282..112577365hg38UCSC Ensembl
chr3:112296129..112296212hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14019208
SamplesNA12878
Known GenesSLC35A5
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)nsv3053921
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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