A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868726



Internal ID22643661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179085278..179086393hg38UCSC Ensembl
chr1:179054413..179055528hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360922
Samples
Known GenesTOR3A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868726
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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