A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894714



Internal ID22669789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205617560..205617651hg38UCSC Ensembl
chr2:206482284..206482375hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396891
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894714
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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