A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981814



Internal ID55229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50837303..50837354hg38UCSC Ensembl
chr6:50805016..50805067hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401097
Supporting Variants
Samples
Known GenesTFAP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981814
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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