A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889297



Internal ID22664313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:64832586..64963568hg38UCSC Ensembl
chr6:65542479..65673461hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38130983
hg19130983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435236
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889297
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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