A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985050



Internal ID21894393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93876138..93883276hg38UCSC Ensembl
chr1:94341694..94348832hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg387139
hg197139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521488
Samples
Known GenesDNTTIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985050
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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