A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6520118



Internal ID20893479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17555001..17558100hg38UCSC Ensembl
chr19:17665810..17668909hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18197704
Samples
Known GenesCOLGALT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6520118
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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