A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200439



Internal ID20767479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152304171..152309093hg38UCSC Ensembl
chr1:152276647..152281569hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384923
hg194923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334128
Supporting Variants
Samples
Known GenesFLG
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200439
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00223


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