A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985130



Internal ID21894473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93104956..93105049hg38UCSC Ensembl
chr1:93570513..93570606hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530698
Samples
Known GenesMTF2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985130
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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