A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6541623



Internal ID20914905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46089428..46141193hg38UCSC Ensembl
chr21:47509342..47561107hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851766
hg1951766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18073064
Samples
Known GenesCOL6A2, FTCD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6541623
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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