A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18219278



Internal ID20786318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140501..221000hg38UCSC Ensembl
chr7:140501..221000hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3880500
hg1980500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6619739
Supporting Variants
Samples
Known GenesFAM20C, LOC100507642
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18219278
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00033


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