A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340523



Internal ID20998076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58113512..58118784hg38UCSC Ensembl
chr2:58340647..58345919hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg385273
hg195273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089141
Samples
Known GenesVRK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340523
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