A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13690118



Internal ID21211972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47316724..47316724hg38UCSC Ensembl
chr3:47358214..47358214hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2808700
Supporting Variants
Samples
Known GenesKLHL18
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13690118
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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