A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv582n223



Internal ID22803550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247513101..247536800hg38UCSC Ensembl
chr1:247676403..247700102hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3823700
hg1923700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6326361, nsv6315609
Samples
Known GenesGCSAML, GCSAML-AS1, OR2C3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv582n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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