A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468425



Internal ID246223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39905999..39906091hg38UCSC Ensembl
chr6:39873775..39873867hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981378
Samples
Known GenesMOCS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468425
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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