A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878302



Internal ID22653267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229418601..229419121hg38UCSC Ensembl
chr1:229554348..229554868hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360631
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878302
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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