A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6042030



Internal ID21951355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7040635..7040635hg38UCSC Ensembl
chr2:7180766..7180766hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526887
Samples
Known GenesRNF144A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6042030
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