A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3051705



Internal ID21183750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34541467..34541467hg38UCSC Ensembl
chr1:35007068..35007068hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38671
hg19671
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024927
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)nsv3051705
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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