A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473141



Internal ID250834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151066622..151077929hg38UCSC Ensembl
chr6:151387758..151399065hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3811308
hg1911308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16990005
Samples
Known GenesMTHFD1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473141
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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