A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954550



Internal ID22729785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147694825..147694825hg38UCSC Ensembl
chr6:148015961..148015961hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424838
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954550
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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