A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16937436



Internal ID25685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99772482..99776580hg38UCSC Ensembl
chr3:99491326..99495424hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg384099
hg194099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435486
Supporting Variants
Samples
Known GenesCOL8A1, MIR548G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16937436
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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