A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906485



Internal ID22681686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144333057..144333149hg38UCSC Ensembl
chr2:145090624..145090716hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392302
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906485
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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