A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427331



Internal ID22485201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47430153..47533200hg38UCSC Ensembl
chr3:47471643..47574690hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38103048
hg19103048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903215
Supporting Variants
Samples
Known GenesELP6, SCAP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427331
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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