A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462393



Internal ID240322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:905625..987665hg38UCSC Ensembl
chr7:945262..1027301hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3882041
hg1982040
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992154
Samples
Known GenesADAP1, COX19, CYP2W1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462393
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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