A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549816



Internal ID20922967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45988465..46033030hg38UCSC Ensembl
chr21:47408379..47452944hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3844566
hg1944566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204192
Samples
Known GenesCOL6A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549816
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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