A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543199



Internal ID20916451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40745751..40746155hg38UCSC Ensembl
chr21:42117677..42118081hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18072773
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543199
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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