A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404633



Internal ID183982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93083202..93083253hg38UCSC Ensembl
chr1:93548759..93548810hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906680
Samples
Known GenesMTF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404633
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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