A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001227



Internal ID20568267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49976224..49977611hg38UCSC Ensembl
chr12:50370007..50371394hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381388
hg191388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456203
Supporting Variants
Samples
Known GenesAQP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001227
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