A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991143



Internal ID21900486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96801589..96801652hg38UCSC Ensembl
chr2:97467326..97467389hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532376
Samples
Known GenesCNNM4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991143
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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