A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991610



Internal ID21900953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151244866..151253594hg38UCSC Ensembl
chr3:150962654..150971382hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg388729
hg198729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17545395
Samples
Known GenesMED12L, P2RY14
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991610
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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