A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476257



Internal ID21133810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130815023..130820815hg38UCSC Ensembl
chr12:131299568..131305360hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg385793
hg195793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997972
Samples
Known GenesSTX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476257
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