A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873352



Internal ID22648298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154711934..154712009hg38UCSC Ensembl
chr1:154684410..154684485hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350541
Samples
Known GenesKCNN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873352
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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