A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402731



Internal ID22460601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37435943..37435994hg38UCSC Ensembl
chr21:38808245..38808296hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957125
Supporting Variants
Samples
Known GenesDYRK1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402731
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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