A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992866



Internal ID21902209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196705728..196737305hg38UCSC Ensembl
chr3:196432599..196464176hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3831578
hg1931578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17552841
Samples
Known GenesCEP19, PIGX
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992866
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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