A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988583



Internal ID21897926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241622950..241623312hg38UCSC Ensembl
chr2:242562365..242562727hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17526261
Samples
Known GenesTHAP4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988583
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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