A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597967



Internal ID21546588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46382824..46383027hg38UCSC Ensembl
chr21:47802739..47802942hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17129188
SamplesNA19238
Known GenesPCNT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597967
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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