A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3045027



Internal ID21176827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44306114..44306114hg38UCSC Ensembl
chr21:45725997..45725997hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14021120
SamplesNA12878
Known GenesPFKL
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)nsv3045027
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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