A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5915123



Internal ID22690341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148869198..148869789hg38UCSC Ensembl
chr7:148566290..148566881hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438953
Samples
Known GenesEZH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5915123
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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