A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987147



Internal ID21896490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196770041..196777394hg38UCSC Ensembl
chr2:197634765..197642118hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387354
hg197354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526458
Samples
Known GenesGTF3C3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987147
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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