A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893534



Internal ID22668595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190422954..190427340hg38UCSC Ensembl
chr2:191287680..191292066hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg384387
hg194387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401196
Samples
Known GenesMFSD6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893534
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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