A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216135



Internal ID20783175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:169242697..169243335hg38UCSC Ensembl
chr6:169642792..169643430hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38639
hg19639
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6616726
Supporting Variants
Samples
Known GenesTHBS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216135
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.04049


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