A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14024927



Internal ID21174290
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 StatusS
Merged Variantsnsv3051705
Supporting Variants
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)nssv14024927
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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