A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407763



Internal ID187093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148371975..148372026hg38UCSC Ensembl
chr6:148693111..148693162hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989296
Samples
Known GenesSASH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407763
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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