A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943112



Internal ID29392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169485713..169486042hg38UCSC Ensembl
chr3:169203501..169203830hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448211
Supporting Variants
Samples
Known GenesMECOM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943112
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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