A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427952



Internal ID22485822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16345300..16345841hg38UCSC Ensembl
chr3:16386807..16387348hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38542
hg19542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900970
Supporting Variants
Samples
Known GenesRFTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427952
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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