A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040514



Internal ID21949857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170190673..170190673hg38UCSC Ensembl
chr1:170159814..170159814hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536698
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040514
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