A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888146



Internal ID22663147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200125079..200154139hg38UCSC Ensembl
chr2:200989802..201018862hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3829061
hg1929061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401679
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888146
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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