A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123229



Internal ID21458806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131482744..131482744hg38UCSC Ensembl
chr3:131201588..131201588hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611271
Supporting Variants
SamplesHG02587
Known GenesMRPL3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123229
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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