A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6084533



Internal ID21993766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74482697..74482697hg38UCSC Ensembl
chr17:72478836..72478836hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17633170
Samples
Known GenesCD300A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6084533
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer