A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425749



Internal ID22483619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:153450540..153506559hg38UCSC Ensembl
chr3:153168329..153224348hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg3856020
hg1956020
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893567
Supporting Variants
Samples
Known GenesC3orf79
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425749
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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