A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5582456



Internal ID21530969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118148553..118148704hg38UCSC Ensembl
chr2:118906129..118906280hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108267
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5582456
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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