A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554924



Internal ID20928014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40746401..40749100hg38UCSC Ensembl
chr21:42118327..42121026hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18072774
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554924
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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