A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988471



Internal ID21897814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236356290..236356816hg38UCSC Ensembl
chr2:237264933..237265459hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536746
Samples
Known GenesIQCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988471
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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