A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6551578



Internal ID20924711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42982647..42987389hg38UCSC Ensembl
chr21:44402757..44407499hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384743
hg194743
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204104
Samples
Known GenesPKNOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6551578
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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