A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464273



Internal ID242154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151077901..151079992hg38UCSC Ensembl
chr6:151399037..151401128hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382092
hg192092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16990006
Samples
Known GenesMTHFD1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464273
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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