A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396683



Internal ID176098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37849715..37849766hg38UCSC Ensembl
chr1:38315387..38315438hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902070
Samples
Known GenesMTF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396683
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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