A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888032



Internal ID22663032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240267029..240271323hg38UCSC Ensembl
chr2:241206446..241210740hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384295
hg194295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398314
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888032
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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