A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872312



Internal ID22647251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69450400..69450481hg38UCSC Ensembl
chr2:69677532..69677613hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402893
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872312
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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