A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv524n223



Internal ID22803492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212827801..212840800hg38UCSC Ensembl
chr1:213001143..213014142hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3813000
hg1913000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6318258, nsv6324235
Samples
Known GenesC1orf227
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv524n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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