A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414529



Internal ID22472399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192688157..192886819hg38UCSC Ensembl
chr3:192405946..192604608hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38198663
hg19198663
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5902327
Supporting Variants
Samples
Known GenesFGF12, MB21D2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414529
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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