A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318711



Internal ID20851803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200279147..200287317hg38UCSC Ensembl
chr1:200248275..200256445hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg388171
hg198171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202342
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318711
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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