A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733790



Internal ID157456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:6120000..6135300hg38UCSC Ensembl
chr21:44822854..44838141hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3815301
hg1915288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146645
Supporting Variants
Samples
Known GenesSIK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733790
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00058


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