A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912745



Internal ID22687961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148763589..148821185hg38UCSC Ensembl
chr7:148460681..148518277hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3857597
hg1957597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436110
Samples
Known GenesCUL1, EZH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912745
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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