A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5884670



Internal ID22659653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48516960..48520319hg38UCSC Ensembl
chr2:48744099..48747458hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg383360
hg193360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390028
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5884670
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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