A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488244



Internal ID21145797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112935738..112938785hg38UCSC Ensembl
chr12:113373543..113376590hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996828
Samples
Known GenesOAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488244
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