A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988221



Internal ID21897564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236381292..236381505hg38UCSC Ensembl
chr2:237289935..237290148hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519437
Samples
Known GenesIQCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988221
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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