A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215148



Internal ID20782188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180719401..181088900hg38UCSC Ensembl
chr5:180146401..180515900hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38369500
hg19369500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407997
Supporting Variants
Samples
Known GenesBTNL3, BTNL8, BTNL9, HEIH, LINC00847, MGAT1, MIR8089, OR2Y1, ZFP62
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215148
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00033


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