A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146425



Internal ID345630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:6130000..6135300hg38UCSC Ensembl
chr21:44822854..44828146hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385301
hg195293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733792
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146425
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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