A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327500



Internal ID20860639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183947979..184225010hg38UCSC Ensembl
chr1:183917113..184194144hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38277032
hg19277032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201759
Samples
Known GenesCOLGALT2, TSEN15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327500
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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