A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv584n223



Internal ID22803552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247906731..248623795hg38UCSC Ensembl
chr1:248070033..248787096hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38717065
hg19717064
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6329511, nsv6317624
Samples
Known GenesOR14C36, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T12, OR2T2, OR2T29, OR2T3, OR2T33, OR2T34, OR2T4, OR2T5, OR2T6, OR2T8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv584n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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