A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471228



Internal ID248971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39714872..39714930hg38UCSC Ensembl
chr6:39682648..39682706hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981585
Samples
Known GenesKIF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471228
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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