A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749201



Internal ID20525231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212304429..212304496hg38UCSC Ensembl
chr1:212477771..212477838hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283868
Samples
Known GenesPPP2R5A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749201
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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