A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800203



Internal ID21245541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186857182..186857182hg38UCSC Ensembl
chr1:186826314..186826314hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13686494
Samples
Known GenesPLA2G4A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800203
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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