A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410213



Internal ID189530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:67016252..67016303hg38UCSC Ensembl
chr7:66481239..66481290hg19UCSC Ensembl
Cytoband7q11.21
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 Variantsnssv16997919
Samples
Known GenesTYW1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410213
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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