A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904493



Internal ID22679670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133049052..133120962hg38UCSC Ensembl
chr2:133806625..133878535hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3871911
hg1971911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394517
Samples
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904493
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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