A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054558



Internal ID20621599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179961601..179970500hg38UCSC Ensembl
chr1:179930736..179939635hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg388900
hg198900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332294
Supporting Variants
Samples
Known GenesCEP350
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054558
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00051


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