A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987288



Internal ID21896631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177945826..177945877hg38UCSC Ensembl
chr2:178810553..178810604hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17523303
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987288
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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