A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460514



Internal ID238495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40466322..40467271hg38UCSC Ensembl
chr6:40434061..40435010hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38950
hg19950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984656
Samples
Known GenesLRFN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460514
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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