A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18228724



Internal ID20795764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79076801..79079100hg38UCSC Ensembl
chr6:79786518..79788817hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401388
Supporting Variants
Samples
Known GenesPHIP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18228724
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00024


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