A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414580



Internal ID22472450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52692369..52692369hg38UCSC Ensembl
chr3:52726385..52726385hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5964600
Supporting Variants
Samples
Known GenesGNL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414580
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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