A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215530



Internal ID20782570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128443956..128448963hg38UCSC Ensembl
chr6:128765101..128770108hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg385008
hg195008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6611806
Supporting Variants
Samples
Known GenesPTPRK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215530
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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