A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470510



Internal ID248266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75768556..75786157hg38UCSC Ensembl
chr6:76478273..76495874hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3817602
hg1917602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987308
Samples
Known GenesMYO6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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