A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912244



Internal ID22687460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30092565..30092649hg38UCSC Ensembl
chr7:30132181..30132265hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17437696
Samples
Known GenesPLEKHA8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912244
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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