A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201472



Internal ID20768512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54479749..54555668hg38UCSC Ensembl
chr1:54945422..55021341hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3875920
hg1975920
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319750
Supporting Variants
Samples
Known GenesACOT11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201472
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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