A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6066394



Internal ID21975627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130403623..130403623hg38UCSC Ensembl
chr7:130043464..130043464hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg386004
hg196004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17559581
Samples
Known GenesCEP41
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6066394
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