A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882444



Internal ID22657421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104174189..104175791hg38UCSC Ensembl
chr2:104790647..104792249hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381603
hg191603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407794
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882444
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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