A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220991



Internal ID20788031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50447501..50452600hg38UCSC Ensembl
chr7:50515199..50520298hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6604499
Supporting Variants
Samples
Known GenesFIGNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220991
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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