A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215597



Internal ID20782637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133885401..133893000hg38UCSC Ensembl
chr6:134206539..134214138hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg387600
hg197600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6606035
Supporting Variants
Samples
Known GenesTCF21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215597
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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