A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv412n223



Internal ID22803380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161522101..161527300hg38UCSC Ensembl
chr1:161491891..161497090hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg385200
hg195200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6329301, nsv6330421
Samples
Known GenesHSPA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv412n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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