A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215161



Internal ID20782201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180850968..181155283hg38UCSC Ensembl
chr5:180277968..180582283hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38304316
hg19304316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401030
Supporting Variants
Samples
Known GenesBTNL3, BTNL8, BTNL9, MIR8089, OR2V1, OR2V2, ZFP62
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215161
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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