A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551703



Internal ID325136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39406999..39425906hg38UCSC Ensembl
chr21:40778925..40797832hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3818908
hg1918908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726888
Samples
Known GenesLCA5L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551703
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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