A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869493



Internal ID22644428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3312564..3320727hg38UCSC Ensembl
chr2:3316335..3324498hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg388164
hg198164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390300
Samples
Known GenesTSSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869493
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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