A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892216



Internal ID22667262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126112799..126112891hg38UCSC Ensembl
chr2:126870376..126870468hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389875
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892216
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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