A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872458



Internal ID22647398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35615641..35618651hg38UCSC Ensembl
chr1:36081242..36084252hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg383011
hg193011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370359
Samples
Known GenesPSMB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872458
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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