A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548609



Internal ID20921793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43016101..43046900hg38UCSC Ensembl
chr21:44436211..44467010hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3830800
hg1930800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204105
Samples
Known GenesPKNOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548609
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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