A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888608



Internal ID22663616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205991109..206007014hg38UCSC Ensembl
chr2:206855833..206871738hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3815906
hg1915906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398720
Samples
Known GenesINO80D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888608
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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