A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483724



Internal ID261153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148869198..148869792hg38UCSC Ensembl
chr7:148566290..148566884hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17005654
Samples
Known GenesEZH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483724
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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