A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001360



Internal ID20568400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44771368..44784149hg38UCSC Ensembl
chr12:45165151..45177932hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3812782
hg1912782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467862
Supporting Variants
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001360
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