A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454103



Internal ID232207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147531464..147544997hg38UCSC Ensembl
chr6:147852600..147866133hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3813534
hg1913534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989909
Samples
Known GenesSAMD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454103
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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