A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344805



Internal ID21002358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47533042..47537362hg38UCSC Ensembl
chr2:47760181..47764501hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384321
hg194321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209833
Samples
Known GenesKCNK12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344805
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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