A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896211



Internal ID22671300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199624894..199625341hg38UCSC Ensembl
chr2:200489617..200490064hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405457
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896211
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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