A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv377n223



Internal ID22803345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149072201..149080600hg38UCSC Ensembl
chr1:148336802..148345187hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg388400
hg198386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6331805, nsv6316592, nsv6316353
Samples
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv377n223
Frequency
Sample Size19652
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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