A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754630



Internal ID20530490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77356664..77356664hg38UCSC Ensembl
chr17:75352746..75352746hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282682
Samples
Known GenesSEPT9
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754630
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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