A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901141



Internal ID22676289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172524288..172537075hg38UCSC Ensembl
chr2:173389016..173401803hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3812788
hg1912788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402249
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901141
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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