A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999172



Internal ID20566212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126100534..126102355hg38UCSC Ensembl
chr12:126585080..126586901hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381822
hg191822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485037
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999172
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