A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319293



Internal ID20852386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225979127..225984060hg38UCSC Ensembl
chr1:226166828..226171761hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg384934
hg194934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202702
Samples
Known GenesSDE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319293
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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