A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6012799



Internal ID21922142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43141672..43144352hg38UCSC Ensembl
chr7:43181271..43183951hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382681
hg192681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17563611
Samples
Known GenesHECW1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6012799
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