A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471503



Internal ID249238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35507917..35545974hg38UCSC Ensembl
chr6:35475694..35513751hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3838058
hg1938058
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983603
Samples
Known GenesTULP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471503
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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