A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv462n223



Internal ID22803430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185949601..185954100hg38UCSC Ensembl
chr1:185918733..185923232hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6321933, nsv6319036
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv462n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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