A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5846812



Internal ID22621747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30100582..30107631hg38UCSC Ensembl
chr7:30140198..30147247hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg387050
hg197050
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17505426
Samples
Known GenesPLEKHA8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5846812
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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