A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987954



Internal ID21897297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232415855..232485889hg38UCSC Ensembl
chr2:233280565..233350599hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3870035
hg1970035
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519098
Samples
Known GenesALPI, ECEL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987954
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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