A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214515



Internal ID20781555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11533301..11542000hg38UCSC Ensembl
chr6:11533534..11542233hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg388700
hg198700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407830
Supporting Variants
Samples
Known GenesTMEM170B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214515
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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