A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764846



Internal ID20540706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:64686760..64686760hg38UCSC Ensembl
chr6:65396653..65396653hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16268538
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764846
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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