A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220994



Internal ID20788034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6458575..6464240hg38UCSC Ensembl
chr7:6498206..6503871hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg385666
hg195666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6609939
Supporting Variants
Samples
Known GenesKDELR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220994
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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