A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215171



Internal ID20782211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180956101..181297100hg38UCSC Ensembl
chr5:180383101..180724101hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38341000
hg19341001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399064
Supporting Variants
Samples
Known GenesBTNL3, BTNL9, GNB2L1, LOC102577426, MIR4638, MIR8089, OR2V1, OR2V2, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM52-AS1, TRIM7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215171
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00053


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