A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987849



Internal ID21897192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203462846..203462921hg38UCSC Ensembl
chr2:204327569..204327644hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530610
Samples
Known GenesRAPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987849
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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