A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981276



Internal ID54890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33372000..33454000hg38UCSC Ensembl
chr6:33339777..33421777hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3882001
hg1982001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141387
Supporting Variants
Samples
Known GenesCUTA, KIFC1, MIR5004, PHF1, SYNGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981276
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001201


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