A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20n206



Internal ID22755324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121389835..121661317hg38UCSC Ensembl
chr1:121131696..121403115hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38271483
hg19271420
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5419416, nsv6138536
Samples
Known GenesEMBP1, SRGAP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv20n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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