A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999086



Internal ID20566126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125073952..125074965hg38UCSC Ensembl
chr12:125558498..125559511hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479611
Supporting Variants
Samples
Known GenesAACS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999086
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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