A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529803



Internal ID305809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16453111..16575111hg38UCSC Ensembl
chr17:16356425..16478425hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38122001
hg19122001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711792
Samples
Known GenesFAM211A, FAM211A-AS1, ZNF287
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529803
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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