A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886478



Internal ID22661465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165761972..165762251hg38UCSC Ensembl
chr1:165731209..165731488hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17349925
Samples
Known GenesTMCO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886478
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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