A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143280



Internal ID342481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:41673901..41674655hg38UCSC Ensembl
chr14:42143104..42143858hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38755
hg19755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695025
Samples
Known GenesLRFN5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143280
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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