A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956748



Internal ID22710387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123744090..123744090hg38UCSC Ensembl
chr2:124501666..124501666hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392418
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956748
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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