A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6065116



Internal ID21974349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138951116..138951116hg38UCSC Ensembl
chr5:138286805..138286805hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17545353
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6065116
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