A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404267



Internal ID22462137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44275774..44339104hg38UCSC Ensembl
chr2:44502913..44566243hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3863331
hg1963331
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870559
Supporting Variants
Samples
Known GenesPREPL, SLC3A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404267
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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