A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473510



Internal ID251195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49961984..49962111hg38UCSC Ensembl
chr6:49929697..49929824hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984886
Samples
Known GenesDEFB114
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473510
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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