A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17489748



Internal ID22547668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184286941..184300509hg38UCSC Ensembl
chr3:184004729..184018297hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3813569
hg1913569
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5835425
Supporting Variants
Samples
Known GenesECE2, PSMD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17489748
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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