A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998096



Internal ID20565137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16556901..16558500hg38UCSC Ensembl
chr12:16709835..16711434hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473929
Supporting Variants
Samples
Known GenesLMO3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998096
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00073


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