A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16990005



Internal ID60747
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 StatusS
Merged Variantsnsv5473141
Supporting Variants
Samples
Known GenesMTHFD1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16990005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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