A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989999



Internal ID60743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151035577..151035628hg38UCSC Ensembl
chr6:151356713..151356764hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400923
Supporting Variants
Samples
Known GenesMTHFD1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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