A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897434



Internal ID22672537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201013442..201013504hg38UCSC Ensembl
chr2:201878165..201878227hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396691
Samples
Known GenesFAM126B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897434
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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