A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482803



Internal ID260249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70618945..71008215hg38UCSC Ensembl
chr7:70083931..70473201hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38389271
hg19389271
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998013
Samples
Known GenesAUTS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482803
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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