A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948763



Internal ID22724226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98435567..98435567hg38UCSC Ensembl
chr2:99052030..99052030hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398806
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948763
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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