A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987122



Internal ID21896465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190422957..190427341hg38UCSC Ensembl
chr2:191287683..191292067hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg384385
hg194385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522482
Samples
Known GenesMFSD6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987122
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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