A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4745723



Internal ID20521733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177945774..177945827hg38UCSC Ensembl
chr2:178810501..178810554hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16278102
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4745723
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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