A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18093246



Internal ID20660286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129894795..129895122hg38UCSC Ensembl
chr3:129613638..129613965hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6360541
Supporting Variants
Samples
Known GenesTMCC1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18093246
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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