A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001069



Internal ID20568109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48422501..48424100hg38UCSC Ensembl
chr12:48816284..48817883hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6468369
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001069
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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