A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217741



Internal ID20784781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80887055..81366473hg38UCSC Ensembl
chr7:80516371..80995789hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38479419
hg19479419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6604154
Supporting Variants
Samples
Known GenesSEMA3C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217741
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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