A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486183



Internal ID263555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149854804..150129000hg38UCSC Ensembl
chr7:149551893..149826089hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38274197
hg19274197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003942
Samples
Known GenesATP6V0E2, ATP6V0E2-AS1, ZNF862
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486183
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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