A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18094111



Internal ID20661151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127696472..127702713hg38UCSC Ensembl
chr3:127415315..127421556hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg386242
hg196242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6361674
Supporting Variants
Samples
Known GenesMGLL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18094111
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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