A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748454



Internal ID21392747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152240212..152325211hg38UCSC Ensembl
chr3:151958001..152043000hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3885000
hg1985000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433911
Supporting Variants
SamplesSMI041
Known GenesMBNL1, MBNL1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748454
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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