A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397828



Internal ID177232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50751132..50751183hg38UCSC Ensembl
chr6:50718845..50718896hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984953
Samples
Known GenesTFAP2D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397828
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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