A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18034725



Internal ID20601765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29974028..29990423hg38UCSC Ensembl
chr17:28301046..28317441hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3816396
hg1916396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511039
Supporting Variants
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18034725
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00053


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