A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922072



Internal ID15477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192107050..192116279hg38UCSC Ensembl
chr2:192971776..192981005hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg389230
hg199230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451809
Supporting Variants
Samples
Known GenesTMEFF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922072
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002967


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