A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054065



Internal ID21186049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5112389..5112389hg38UCSC Ensembl
chr1:5172449..5172449hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14026159
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)nsv3054065
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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