A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903140



Internal ID22678304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203948266..203949903hg38UCSC Ensembl
chr2:204812989..204814626hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381638
hg191638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400293
Samples
Known GenesICOS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903140
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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