A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997859



Internal ID20564899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129352106..129352648hg38UCSC Ensembl
chr12:129836651..129837193hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492780
Supporting Variants
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997859
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00101


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