A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16937085



Internal ID25439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100193826..100195909hg38UCSC Ensembl
chr3:99912670..99914753hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg382084
hg192084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444881
Supporting Variants
Samples
Known GenesTMEM30C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16937085
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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