A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220608



Internal ID20787648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142750759..142772252hg38UCSC Ensembl
chr7:142458610..142475461hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3821494
hg1916852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6423131
Supporting Variants
Samples
Known GenesPRSS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220608
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00405


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