A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199877



Internal ID20766917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206052601..206059700hg38UCSC Ensembl
chr1:206281671..206288769hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg387100
hg197099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332487
Supporting Variants
Samples
Known GenesC1orf186
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199877
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.50149


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