A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734046



Internal ID157712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14245507..14287617hg38UCSC Ensembl
chr21:15617828..15659938hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3842111
hg1942111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525480
Supporting Variants
Samples
Known GenesABCC13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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