A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341264



Internal ID20998817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69381782..69404242hg38UCSC Ensembl
chr2:69608914..69631374hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3822461
hg1922461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18088884
Samples
Known GenesGFPT1, NFU1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341264
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer