A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14025224



Internal ID21174483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45789561..45789615hg38UCSC Ensembl
chr3:45831053..45831107hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3050491
Supporting Variants
SamplesNA12878
Known GenesSLC6A20
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)nssv14025224
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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