A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904039



Internal ID22679212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232501802..232502810hg38UCSC Ensembl
chr2:233366512..233367520hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405177
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904039
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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