A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991728



Internal ID21901071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126388760..126400489hg38UCSC Ensembl
chr3:126107603..126119332hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3811730
hg1911730
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17550999
Samples
Known GenesCCDC37, LOC100506907
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991728
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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