A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046043



Internal ID21178089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45884962..45884962hg38UCSC Ensembl
chr6:45852699..45852699hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026195
SamplesNA12878
Known Genes
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)nsv3046043
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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